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Variant : CV156628 (GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1) Homo sapiens

Symbol: CV156628
Name: GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1
Condition: See cases [RCV000136113]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC004980.1   CCL24   CCL26   DTX2   HIP1   HSPB1   MDH2   MIR4651   POMZP3   POR   RHBDD2   SNORA14A   SPDYE16   SRRM3   SSC4D   STYXL1   TMEM120A   UPK3B   YWHAG   ZP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_75529854)_(76611483_?)del
NC_000007.13:g.(?_75159180)_(76240800_?)del
NC_000007.12:g.(?_74997116)_(76078736_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38775,529,854 - 76,611,483CLINVAR
GRCh37775,159,180 - 76,240,800CLINVAR
Build 36774,997,116 - 76,078,736CLINVAR
Cytogenetic Map77q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483675
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.