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Analyze GeneStrainQTL List |
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Gene Annotator (Annotation Comparison) |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| hereditary hypophosphatemic rickets with hypercalciuria | IAGP | 7240710 | OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease AnnotationsGene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsPhenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | Prie D, etal., Horm Res Paediatr. 2011;76 Suppl 1:71-5. doi: 10.1159/000329175. Epub 2011 Jul 21. |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 7. | Segawa H, etal., J Biol Chem 2002 May 31;277(22):19665-72. Epub 2002 Mar 5. |
References - uncurated| PubMed | 12477932 14702039 15504899 16358214 16358215 16955105 17968493 18468998 18480181 19820004 21873635 22159077 22387237 22672866 22806288 23246670 24700880 24924704 29505567 29809158 |
Comparative Map Data| SLC34A3 (Homo sapiens - human) |
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| Slc34a3 (Mus musculus - house mouse) |
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| Slc34a3 (Rattus norvegicus - Norway rat) |
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| Slc34a3 (Chinchilla lanigera - long-tailed chinchilla) |
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| SLC34A3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SLC34A3 (Canis lupus familiaris - dog) |
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| Slc34a3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SLC34A3 (Sus scrofa - pig) |
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Position Markers| SLC34A3__3713 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Nucleotide Sequences| RefSeq Transcripts | NG_017008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001177316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001177317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_080877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011518261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB055000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB546724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK095999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL832449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC029942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX255925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001177316 ⟹ NP_001170787 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATGGAGACAAGGCCTAGGGGCCTTGGGGCCAGGAGGGTACCCCCGTGAGGGCCTGGGCTCCTGGhide sequence |
| RefSeq Acc Id: | NM_001177317 ⟹ NP_001170788 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATGGAGACAAGGCCTAGGGGCCTTGGGGCCAGGAGGGTACCCCCGTGAGGGCCTGGGCTCCTGGhide sequence |
| RefSeq Acc Id: | NM_080877 ⟹ NP_543153 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ACACAGGTAGGAGCTCCTAGGACCAGGCTGAGGCCCAGGGACAGTGAGGCCGAGGCTGGGTGGChide sequence |
| RefSeq Acc Id: | XM_011518257 ⟹ XP_011516559 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGChide sequence |
| RefSeq Acc Id: | XM_011518258 ⟹ XP_011516560 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACCCACACAGCAGATCTAGACCTGGGCCTGGGTCTGTCCCTGCCCGAAATCCATGCCGAGTTCChide sequence |
| RefSeq Acc Id: | XM_011518259 ⟹ XP_011516561 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ACACAGGTAGGAGCTCCTAGGACCAGGCTGAGGCCCAGGGACAGTGAGGCCGAGGCTGGGTGGChide sequence |
| RefSeq Acc Id: | XM_011518260 ⟹ XP_011516562 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTTGACCTGCAACTGCTCCCGCCCCGTGTCTCCTCCCTGCAGGTGCCCCCTCACCACCCACACAhide sequence |
| RefSeq Acc Id: | XM_011518261 ⟹ XP_011516563 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCTCCTAGGACCAGGCTGAGGCCCAGGGACAGTGAGGCCGAGGCTGGGTGGCCTCCAGGCCAAGhide sequence |
| RefSeq Acc Id: | XM_017014290 ⟹ XP_016869779 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CGTGAGGGCCTGGGCTCCTGGGTAAACATTAATGGGCTCAGTACCCAGCAGGTCATGTGCGCGAhide sequence |
| RefSeq Acc Id: | XM_017014291 ⟹ XP_016869780 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGChide sequence |
| RefSeq Acc Id: | XM_017014292 ⟹ XP_016869781 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CAGCTCATGGCCTGCACCCTCGGCACTAGCCTTCCAGTCAGGACCAGCAAGGGAGCCGGGGAGChide sequence |
Protein Sequences| Protein RefSeqs | NP_001170787 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001170788 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_543153 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516559 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516560 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516561 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516562 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516563 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869779 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869780 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869781 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | BAB83242 | (Get FASTA) | NCBI Sequence Viewer |
| BAC04667 | (Get FASTA) | NCBI Sequence Viewer | |
| BAJ14718 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8N130 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001170788 ⟸ NM_001177317 |
| - UniProtKB: | Q8N130 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | NP_001170787 ⟸ NM_001177316 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | NP_543153 ⟸ NM_080877 |
| - UniProtKB: | Q8N130 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_011516562 ⟸ XM_011518260 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_011516560 ⟸ XM_011518258 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_011516561 ⟸ XM_011518259 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_011516563 ⟸ XM_011518261 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_011516559 ⟸ XM_011518257 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_016869779 ⟸ XM_017014290 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_016869781 ⟸ XM_017014292 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q8N130 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
| RefSeq Acc Id: | XP_016869780 ⟸ XM_017014291 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGhide sequence |
Promoters| RGD ID: | 6807954 | |||||||||
| Promoter ID: | HG_KWN:65730 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3 | |||||||||
| Transcripts: | UC004CMC.1 | |||||||||
| Position: |
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| RGD ID: | 6808237 | |||||||||
| Promoter ID: | HG_KWN:65731 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, K562 | |||||||||
| Transcripts: | NM_001177316, NM_001177317, NM_080877, UC004CMD.1 | |||||||||
| Position: |
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| RGD ID: | 6813712 | |||||||||
| Promoter ID: | HG_ACW:83034 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | SLC34A3.EAPR07 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_080877.2(SLC34A3):c.1765G>A (p.Glu589Lys) | single nucleotide variant | not specified [RCV000520844] | Chr9:137236381 [GRCh38] Chr9:140130833 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.908del (p.Pro303fs) | deletion | Autosomal recessive hypophosphatemic bone disease [RCV000001491] | Chr9:137233924 [GRCh38] Chr9:140128376 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1058G>T (p.Arg353Leu) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000001492] | Chr9:137234241 [GRCh38] Chr9:140128693 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1238C>A (p.Ala413Glu) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000001493] | Chr9:137234634 [GRCh38] Chr9:140129086 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.846G>A (p.Pro282=) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000001494] | Chr9:137233722 [GRCh38] Chr9:140128174 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.228del (p.Cys77fs) | deletion | Autosomal recessive hypophosphatemic bone disease [RCV000001495] | Chr9:137232627 [GRCh38] Chr9:140127079 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.586G>A (p.Gly196Arg) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000001496] | Chr9:137233234 [GRCh38] Chr9:140127686 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1402C>T (p.Arg468Trp) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000001497] | Chr9:137236018 [GRCh38] Chr9:140130470 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.925+20_926-48del | deletion | Autosomal recessive hypophosphatemic bone disease [RCV000001498] | Chr9:137233961..137234061 [GRCh38] Chr9:140128413..140128513 [GRCh37] Chr9:9q34 |
pathogenic |
| NM_080877.2(SLC34A3):c.756G>A (p.Gln252=) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000001499] | Chr9:137233404 [GRCh38] Chr9:140127856 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1093+41_1094-15del | deletion | Autosomal recessive hypophosphatemic bone disease [RCV000001500] | Chr9:137234317..137234401 [GRCh38] Chr9:140128769..140128853 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.944del (p.Gly315fs) | deletion | not provided [RCV000722603] | Chr9:137234125 [GRCh38] Chr9:140128577 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1703G>A (p.Arg568His) | single nucleotide variant | not provided [RCV000728613] | Chr9:137236319 [GRCh38] Chr9:140130771 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | Sensorineural hearing loss [RCV000050344]|See cases [RCV000050344] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 | copy number loss | Intellectual functioning disability [RCV000051116]|See cases [RCV000051116] | Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 | copy number loss | Talipes equinovarus [RCV000052936]|See cases [RCV000052936] | Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052887]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052887]|See cases [RCV000052887] | Chr9:137092629..137375788 [GRCh38] Chr9:139987081..140270240 [GRCh37] Chr9:139106902..139390061 [NCBI36] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1 | copy number loss | Talipes equinovarus [RCV000052951]|See cases [RCV000052951] | Chr9:137215877..137830604 [GRCh38] Chr9:140110329..140725056 [GRCh37] Chr9:139230150..139844877 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052937]|See cases [RCV000052937] | Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] | Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052940]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052940]|See cases [RCV000052940] | Chr9:136926575..138114463 [GRCh38] Chr9:139821027..141008915 [GRCh37] Chr9:138940848..140128736 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 | copy number loss | Pectus excavatum [RCV000052941]|See cases [RCV000052941] | Chr9:137215877..138138735 [GRCh38] Chr9:140110329..141033187 [GRCh37] Chr9:139230150..140153008 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1051C>T (p.Arg351Cys) | single nucleotide variant | not provided [RCV000054684] | Chr9:137234234 [GRCh38] Chr9:140128686 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1143G>A (p.Ala381=) | single nucleotide variant | not provided [RCV000054685] | Chr9:137234465 [GRCh38] Chr9:140128917 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.218T>C (p.Val73Ala) | single nucleotide variant | not provided [RCV000054686] | Chr9:137232617 [GRCh38] Chr9:140127069 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.245G>T (p.Ser82Ile) | single nucleotide variant | not provided [RCV000054687] | Chr9:137232644 [GRCh38] Chr9:140127096 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.439G>A (p.Ala147Thr) | single nucleotide variant | not provided [RCV000054688] | Chr9:137232918 [GRCh38] Chr9:140127370 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.472C>T (p.Pro158Ser) | single nucleotide variant | not provided [RCV000054689] | Chr9:137233027 [GRCh38] Chr9:140127479 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.516C>G (p.Thr172=) | single nucleotide variant | not provided [RCV000054690] | Chr9:137233071 [GRCh38] Chr9:140127523 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.572G>A (p.Gly191Asp) | single nucleotide variant | not provided [RCV000054691] | Chr9:137233220 [GRCh38] Chr9:140127672 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.585C>T (p.His195=) | single nucleotide variant | not provided [RCV000054692] | Chr9:137233233 [GRCh38] Chr9:140127685 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053814]|See cases [RCV000053814] | Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| NM_001177317.1(SLC34A3):c.339G>T (p.Val113=) | single nucleotide variant | Malignant melanoma [RCV000068599] | Chr9:137232818 [GRCh38] Chr9:140127270 [GRCh37] Chr9:139247091 [NCBI36] Chr9:9q34.3 |
not provided |
| NM_001177317.1(SLC34A3):c.341T>C (p.Val114Ala) | single nucleotide variant | Malignant melanoma [RCV000068600] | Chr9:137232820 [GRCh38] Chr9:140127272 [GRCh37] Chr9:139247093 [NCBI36] Chr9:9q34.3 |
not provided |
| NM_080877.2(SLC34A3):c.1009G>A (p.Gly337Ser) | single nucleotide variant | not specified [RCV000173913] | Chr9:137234192 [GRCh38] Chr9:140128644 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.929G>A (p.Arg310His) | single nucleotide variant | not provided [RCV000659139]|not specified [RCV000173914] | Chr9:137234112 [GRCh38] Chr9:140128564 [GRCh37] Chr9:9q34.3 |
benign|likely benign |
| NM_080877.2(SLC34A3):c.1538= (p.Val513=) | single nucleotide variant | not specified [RCV000174611] | Chr9:137236154 [GRCh38] Chr9:140130606 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.1585A>T (p.Ile529Phe) | single nucleotide variant | not specified [RCV000174612] | Chr9:137236201 [GRCh38] Chr9:140130653 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.1454G>A (p.Arg485His) | single nucleotide variant | not specified [RCV000174613] | Chr9:137236070 [GRCh38] Chr9:140130522 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.756+9G>A | single nucleotide variant | not specified [RCV000179997] | Chr9:137233413 [GRCh38] Chr9:140127865 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1149C>T (p.Ala383=) | single nucleotide variant | not specified [RCV000174174] | Chr9:137234471 [GRCh38] Chr9:140128923 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.*14A>C | single nucleotide variant | not provided [RCV000590116]|not specified [RCV000174610] | Chr9:137236430 [GRCh38] Chr9:140130882 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 | copy number gain | See cases [RCV000133778] | Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 | copy number gain | See cases [RCV000136790] | Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 | copy number gain | See cases [RCV000137825] | Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 | copy number gain | See cases [RCV000139807] | Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 | copy number gain | See cases [RCV000142955] | Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 | copy number loss | See cases [RCV000142978] | Chr9:136877772..138124524 [GRCh38] Chr9:139772224..141018976 [GRCh37] Chr9:138892045..140138797 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 | copy number gain | See cases [RCV000142636] | Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3 | copy number gain | See cases [RCV000142744] | Chr9:137092629..137270028 [GRCh38] Chr9:139987081..140164480 [GRCh37] Chr9:139106902..139284301 [NCBI36] Chr9:9q34.3 |
benign |
| GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 | copy number gain | See cases [RCV000143394] | Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3 |
likely pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 | copy number loss | See cases [RCV000148284] | Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.375C>T (p.Gly125=) | single nucleotide variant | not specified [RCV000179005] | Chr9:137232854 [GRCh38] Chr9:140127306 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.449-3C>T | single nucleotide variant | not specified [RCV000179550] | Chr9:137233001 [GRCh38] Chr9:140127453 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.575C>T (p.Ser192Leu) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000513414]|not provided [RCV000681813]|not specified [RCV000179995] | Chr9:137233223 [GRCh38] Chr9:140127675 [GRCh37] Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_080877.2(SLC34A3):c.698C>T (p.Ala233Val) | single nucleotide variant | not specified [RCV000179996] | Chr9:137233346 [GRCh38] Chr9:140127798 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.837G>A (p.Thr279=) | single nucleotide variant | not specified [RCV000180375] | Chr9:137233713 [GRCh38] Chr9:140128165 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.882G>A (p.Pro294=) | single nucleotide variant | not specified [RCV000180697] | Chr9:137233898 [GRCh38] Chr9:140128350 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.769A>G (p.Met257Val) | single nucleotide variant | not specified [RCV000375793] | Chr9:137233645 [GRCh38] Chr9:140128097 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1512C>T (p.Phe504=) | single nucleotide variant | not specified [RCV000377060] | Chr9:137236128 [GRCh38] Chr9:140130580 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.383T>A (p.Val128Asp) | single nucleotide variant | not specified [RCV000273121] | Chr9:137232862 [GRCh38] Chr9:140127314 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.987C>T (p.Ala329=) | single nucleotide variant | not specified [RCV000307680] | Chr9:137234170 [GRCh38] Chr9:140128622 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.539G>C (p.Gly180Ala) | single nucleotide variant | not specified [RCV000341994] | Chr9:137233094 [GRCh38] Chr9:140127546 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.757T>C (p.Leu253=) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000605740]|not provided [RCV000589708]|not specified [RCV000342041] | Chr9:137233633 [GRCh38] Chr9:140128085 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.779G>A (p.Ser260Asn) | single nucleotide variant | not specified [RCV000386676] | Chr9:137233655 [GRCh38] Chr9:140128107 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_080877.2(SLC34A3):c.1072G>A (p.Val358Met) | single nucleotide variant | not specified [RCV000284038] | Chr9:137234255 [GRCh38] Chr9:140128707 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.709G>A (p.Asp237Asn) | single nucleotide variant | not specified [RCV000356868] | Chr9:137233357 [GRCh38] Chr9:140127809 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_080877.2(SLC34A3):c.1074G>A (p.Val358=) | single nucleotide variant | not specified [RCV000394330] | Chr9:137234257 [GRCh38] Chr9:140128709 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.978C>T (p.Ile326=) | single nucleotide variant | not specified [RCV000326484] | Chr9:137234161 [GRCh38] Chr9:140128613 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1140C>T (p.Leu380=) | single nucleotide variant | not specified [RCV000398993] | Chr9:137234462 [GRCh38] Chr9:140128914 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_080877.2(SLC34A3):c.790G>A (p.Gly264Ser) | single nucleotide variant | not specified [RCV000331619] | Chr9:137233666 [GRCh38] Chr9:140128118 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_080877.2(SLC34A3):c.273C>T (p.Asp91=) | single nucleotide variant | not specified [RCV000265310] | Chr9:137232672 [GRCh38] Chr9:140127124 [GRCh37] Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_080877.2(SLC34A3):c.175+123C>T | single nucleotide variant | not provided [RCV000586979] | Chr9:137232284 [GRCh38] Chr9:140126736 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.1601_1633dup (p.Leu534_Val544dup) | duplication | not provided [RCV000722297] | Chr9:137236210..137236211 [GRCh38] Chr9:140130662..140130663 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1464T>C (p.Ala488=) | single nucleotide variant | not specified [RCV000596041] | Chr9:137236080 [GRCh38] Chr9:140130532 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1335+257T>G | single nucleotide variant | not provided [RCV000587909] | Chr9:137234988 [GRCh38] Chr9:140129440 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.-39-94C>T | single nucleotide variant | not provided [RCV000588654] | Chr9:137231570 [GRCh38] Chr9:140126022 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.-110G>A | single nucleotide variant | not provided [RCV000586817] | Chr9:137231009 [GRCh38] Chr9:140125461 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.847-45T>A | single nucleotide variant | not provided [RCV000587102] | Chr9:137233818 [GRCh38] Chr9:140128270 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.560+22T>C | single nucleotide variant | not provided [RCV000589628] | Chr9:137233137 [GRCh38] Chr9:140127589 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.734C>T (p.Pro245Leu) | single nucleotide variant | not specified [RCV000591085] | Chr9:137233382 [GRCh38] Chr9:140127834 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.321C>T (p.Asp107=) | single nucleotide variant | not specified [RCV000591591] | Chr9:137232800 [GRCh38] Chr9:140127252 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_080877.2(SLC34A3):c.1727G>T (p.Ser576Ile) | single nucleotide variant | not provided [RCV000731107] | Chr9:137236343 [GRCh38] Chr9:140130795 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1060G>A (p.Val354Met) | single nucleotide variant | not provided [RCV000731108] | Chr9:137234243 [GRCh38] Chr9:140128695 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.533A>G (p.Gln178Arg) | single nucleotide variant | not provided [RCV000731112] | Chr9:137233088 [GRCh38] Chr9:140127540 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1484G>C (p.Gly495Ala) | single nucleotide variant | not specified [RCV000595356] | Chr9:137236100 [GRCh38] Chr9:140130552 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.945C>T (p.Gly315=) | single nucleotide variant | not provided [RCV000734378] | Chr9:137234128 [GRCh38] Chr9:140128580 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) | deletion | not specified [RCV000728723] | Chr9:137232594..137232614 [GRCh38] Chr9:140127046..140127066 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_080877.2(SLC34A3):c.1610G>A (p.Arg537His) | single nucleotide variant | not specified [RCV000594401] | Chr9:137236226 [GRCh38] Chr9:140130678 [GRCh37] Chr9:9q34.3 |
likely benign |
| NM_080877.2(SLC34A3):c.305-8del | deletion | not provided [RCV000733960] | Chr9:137232776 [GRCh38] Chr9:140127228 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1198G>C (p.Val400Leu) | single nucleotide variant | not provided [RCV000734105] | Chr9:137234520 [GRCh38] Chr9:140128972 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.448C>T (p.Leu150=) | single nucleotide variant | not provided [RCV000732841] | Chr9:137232927 [GRCh38] Chr9:140127379 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1556dup (p.Pro520fs) | duplication | Autosomal recessive hypophosphatemic bone disease [RCV000505556] | Chr9:137236172 [GRCh38] Chr9:140130624 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1274C>T (p.Thr425Ile) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000449572] | Chr9:137234670 [GRCh38] Chr9:140129122 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 | copy number loss | See cases [RCV000446074] | Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 | copy number loss | See cases [RCV000446191] | Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 | copy number loss | See cases [RCV000448743] | Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.210del (p.Gly71fs) | deletion | not provided [RCV000481507] | Chr9:137232609 [GRCh38] Chr9:140127061 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1623G>A (p.Trp541Ter) | single nucleotide variant | not provided [RCV000484421] | Chr9:137236239 [GRCh38] Chr9:140130691 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| NM_080877.2(SLC34A3):c.1653G>A (p.Trp551Ter) | single nucleotide variant | not provided [RCV000480521] | Chr9:137236269 [GRCh38] Chr9:140130721 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| NM_080877.2(SLC34A3):c.781A>G (p.Ser261Gly) | single nucleotide variant | not specified [RCV000502467] | Chr9:137233657 [GRCh38] Chr9:140128109 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 | copy number loss | See cases [RCV000510584] | Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 | copy number gain | See cases [RCV000511188] | Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| NM_080877.2(SLC34A3):c.448+1G>A | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000681630]|not provided [RCV000514313] | Chr9:137232928 [GRCh38] Chr9:140127380 [GRCh37] Chr9:9q34.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_080877.2(SLC34A3):c.1473C>T (p.Tyr491=) | single nucleotide variant | not specified [RCV000594295] | Chr9:137236089 [GRCh38] Chr9:140130541 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| NM_080877.2(SLC34A3):c.1164A>G (p.Ala388=) | single nucleotide variant | not specified [RCV000594155] | Chr9:137234486 [GRCh38] Chr9:140128938 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1210G>A (p.Gly404Arg) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000625609] | Chr9:137234532 [GRCh38] Chr9:140128984 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1211-36G>A | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000625610] | Chr9:137234571 [GRCh38] Chr9:140129023 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 | copy number loss | mTOR Inhibitor response [RCV000626442] | Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
| NM_080877.2(SLC34A3):c.625C>T (p.Leu209=) | single nucleotide variant | not specified [RCV000609623] | Chr9:137233273 [GRCh38] Chr9:140127725 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.200G>A (p.Arg67His) | single nucleotide variant | not specified [RCV000616091] | Chr9:137232599 [GRCh38] Chr9:140127051 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.423C>T (p.Ile141=) | single nucleotide variant | not specified [RCV000596640] | Chr9:137232902 [GRCh38] Chr9:140127354 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| NM_080877.2(SLC34A3):c.1094-10T>A | single nucleotide variant | not specified [RCV000604713] | Chr9:137234406 [GRCh38] Chr9:140128858 [GRCh37] Chr9:9q34.3 |
benign |
| NM_080877.2(SLC34A3):c.448+5G>A | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000512837] | Chr9:137232932 [GRCh38] Chr9:140127384 [GRCh37] Chr9:9q34.3 |
likely pathogenic |
| NM_080877.2(SLC34A3):c.1561dup (p.Leu521fs) | duplication | Autosomal recessive hypophosphatemic bone disease [RCV000513018]|not provided [RCV000522409] | Chr9:137236177 [GRCh38] Chr9:140130629 [GRCh37] Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_080877.2(SLC34A3):c.575C>G (p.Ser192Trp) | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000513261] | Chr9:137233223 [GRCh38] Chr9:140127675 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.1639_1652del (p.Arg547fs) | deletion | Autosomal recessive hypophosphatemic bone disease [RCV000513307] | Chr9:137236255..137236268 [GRCh38] Chr9:140130702..140130715 [GRCh37] Chr9:9q34.3 |
pathogenic |
| NM_080877.2(SLC34A3):c.304+2T>C | single nucleotide variant | Autosomal recessive hypophosphatemic bone disease [RCV000513447] | Chr9:137232705 [GRCh38] Chr9:140127157 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 | copy number gain | not provided [RCV000683160] | Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140094273-140218212)x3 | copy number gain | not provided [RCV000753241] | Chr9:140094273..140218212 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:140094273-140218283)x3 | copy number gain | not provided [RCV000753242] | Chr9:140094273..140218283 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:140094273-140332474)x3 | copy number gain | not provided [RCV000753243] | Chr9:140094273..140332474 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:140094273-140167730)x3 | copy number gain | not provided [RCV000753240] | Chr9:140094273..140167730 [GRCh37] Chr9:9q34.3 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 | copy number loss | not provided [RCV000748787] | Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3 | copy number gain | not provided [RCV000848688] | Chr9:139766260..140186072 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3 | copy number gain | not provided [RCV000847406] | Chr9:140064816..140759229 [GRCh37] Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:20305 | AgrOrtholog |
| COSMIC | SLC34A3 | COSMIC |
| Ensembl Genes | ENSG00000198569 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000355353 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000442397 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000361134 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000538474 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000198569 | GTEx |
| HGNC ID | HGNC:20305 | ENTREZGENE |
| Human Proteome Map | SLC34A3 | Human Proteome Map |
| InterPro | Na/Pi_transpt | UniProtKB/Swiss-Prot |
| Na/Pi_transpt_2C | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:142680 | UniProtKB/Swiss-Prot |
| NCBI Gene | 142680 | ENTREZGENE |
| OMIM | 241530 | OMIM |
| 609826 | OMIM | |
| PANTHER | PTHR10010 | UniProtKB/Swiss-Prot |
| PTHR10010:SF35 | UniProtKB/Swiss-Prot | |
| Pfam | Na_Pi_cotrans | UniProtKB/Swiss-Prot |
| PharmGKB | PA134930298 | PharmGKB |
| TIGRFAMs | 2a58 | UniProtKB/Swiss-Prot |
| UniGene | Hs.432442 | ENTREZGENE |
| UniProt | D9N3A0_HUMAN | UniProtKB/TrEMBL |
| NPT2C_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | A2BFA1 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-03-08 | SLC34A3 | solute carrier family 34 member 3 | solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 | Symbol and/or name change | 5135510 | APPROVED | |
| 2014-11-26 | SLC34A3 | solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | Symbol and/or name change | 5135510 | APPROVED | |
| 2013-07-23 | SLC34A3 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | solute carrier family 34 (sodium phosphate), member 3 | Symbol and/or name change | 5135510 | APPROVED |
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| More on SLC34A3 | |
|
Alliance Gene |
|
NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1348656 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
