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Variant : CV72303 (GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1) Homo sapiens

Symbol: CV72303
Name: GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051447]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051447]|See cases [RCV000051447]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARL8B   ARPC4   ARPC4-TTLL3   ATP2B2   ATP2B2-IT2   BHLHE40   BHLHE40-AS1   BRK1   BRPF1   CAMK1   CAV3   CHL1   CHL1-AS1   CHL1-AS2   CIDEC   CNTN4   CNTN4-AS1   CNTN4-AS2   CNTN6   CPNE9   CRBN   CRELD1   EDEM1   EGOT   EMC3   EMC3-AS1   FANCD2   FANCD2OS   GHRL   GHRLOS   GRM7   GRM7-AS1   GRM7-AS2   GRM7-AS3   IL17RC   IL17RE   IL5RA   IRAK2   ITPR1   ITPR1-DT   JAGN1   LHFPL4   LINC00312   LINC00606   LINC00852   LINC01266   LMCD1   LMCD1-AS1   LRRN1   MIR12127   MIR378B   MIR4790   MIR885   MTMR14   OGG1   OXTR   PRRT3   PRRT3-AS1   RAD18   RPUSD3   SEC13   SETD5   SETMAR   SLC6A1   SLC6A1-AS1   SLC6A11   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SUMF1   TADA3   TATDN2   THUMPD3   THUMPD3-AS1   TRNT1   TTLL3   VHL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_52266)_(11089569_?)del
NC_000003.11:g.(?_93949)_(11131255_?)del
NC_000003.10:g.(?_68949)_(11106255_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38352,266 - 11,089,569CLINVAR
GRCh37393,949 - 11,131,255CLINVAR
Build 36368,949 - 11,106,255CLINVAR
Cytogenetic Map33p26.3-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618463
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.