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Variant : CV161661 (GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1) Homo sapiens

Symbol: CV161661
Name: GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1
Condition: See cases [RCV000140595]
Clinical Significance: likely pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CEP78   GNA14   GNAQ   PSAT1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_77531690)_(78300187_?)del
NC_000009.11:g.(?_80146606)_(80915103_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38977,531,690 - 78,300,187CLINVAR
GRCh37980,146,606 - 80,915,103CLINVAR
Build 36979,336,426 - 80,104,923CLINVAR
Cytogenetic Map99q21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488125
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.