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Variant : CV155956 (GRCh38/hg38 7q11.23(chr7:75432651-76418304)x1) Homo sapiens

Symbol: CV155956
Name: GRCh38/hg38 7q11.23(chr7:75432651-76418304)x1
Condition: See cases [RCV000135520]
Clinical Significance: likely pathogenic
Last Evaluated: 05/06/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCL24   CCL26   HIP1   HSPB1   MDH2   MIR4651   POM121C   POR   RHBDD2   SNORA14A   SPDYE5   SRRM3   SSC4D   STYXL1   TMEM120A   YWHAG   ZP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_75432651)_(76418304_?)del
NC_000007.13:g.(?_75061927)_(76047621_?)del
NC_000007.12:g.(?_74899863)_(75885557_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38775,432,651 - 76,418,304CLINVAR
GRCh37775,061,927 - 76,047,621CLINVAR
Build 36774,899,863 - 75,885,557CLINVAR
Cytogenetic Map77q11.23CLINVAR




Additional Information

 
CRRD Object Information
CRRD ID: 9483093
Created: 2014-09-09
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.