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Variant : CV72337 (GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1) Homo sapiens

Symbol: CV72337
Name: GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051482]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051482]|See cases [RCV000051482]
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   BRK1   BRPF1   CAMK1   CIDEC   CPNE9   CRELD1   EMC3   EMC3-AS1   FANCD2   FANCD2OS   IL17RC   IL17RE   IRAK2   JAGN1   MTMR14   OGG1   PRRT3   PRRT3-AS1   RPUSD3   TADA3   TTLL3   VHL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_9654297)_(10228687_?)del
NC_000003.11:g.(?_9695981)_(10270371_?)del
NC_000003.10:g.(?_9670981)_(10245371_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3839,654,297 - 10,228,687CLINVAR
GRCh3739,695,981 - 10,270,371CLINVAR
Build 3639,670,981 - 10,245,371CLINVAR
Cytogenetic Map33p25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618497
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-04
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.