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Variant : CV72335 (GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1) Homo sapiens

Symbol: CV72335
Name: GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   ATP2B2-IT2   BRK1   BRPF1   CAMK1   CAV3   CIDEC   CPNE9   CRELD1   EMC3   EMC3-AS1   FANCD2   FANCD2OS   GHRL   GHRLOS   HRH1   IL17RC   IL17RE   IRAK2   JAGN1   LHFPL4   LINC00606   LINC00852   MIR378B   MIR885   MTMR14   OGG1   OXTR   PRRT3   PRRT3-AS1   RAD18   RPUSD3   SEC13   SETD5   SLC6A1   SLC6A1-AS1   SLC6A11   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   SYN2   TADA3   TAMM41   TATDN2   THUMPD3   THUMPD3-AS1   TTLL3   VGLL4   VHL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_8581778)_(12015238_?)del
NC_000003.11:g.(?_8623464)_(12056738_?)del
NC_000003.10:g.(?_8598464)_(12031738_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3838,581,778 - 12,015,238CLINVAR
GRCh3738,623,464 - 12,056,738CLINVAR
Build 3638,598,464 - 12,031,738CLINVAR
Cytogenetic Map33p25.3-25.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618495
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.