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Variant : CV165100 (GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1) Homo sapiens

Symbol: CV165100
Name: GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1
Condition: See cases [RCV000143413]
Clinical Significance: pathogenic
Last Evaluated: 04/29/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CAPZA2   CAV1   CAV2   COMETT   FOXP2   LINC01392   LINC01393   MDFIC   MET   MIR3666   MIR6132   SNORA25B   ST7   ST7-AS1   ST7-AS2   ST7-OT3   ST7-OT4   TES   TFEC  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_114389395)_(117253741_?)del
NC_000007.13:g.(?_114029450)_(116893795_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387114,389,395 - 117,253,741CLINVAR
GRCh377114,029,450 - 116,893,795CLINVAR
Build 367113,816,686 - 116,681,031CLINVAR
Cytogenetic Map77q31.1-31.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491011
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.