Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV163946 (GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1) Homo sapiens

Symbol: CV163946
Name: GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1
Condition: See cases [RCV000142300]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHRNA7   FAN1   KLF13   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30781532)_(32154629_?)del
NC_000015.9:g.(?_31073735)_(32446830_?)del
NC_000015.8:g.(?_28861027)_(30234122_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,781,532 - 32,154,629CLINVAR
GRCh371531,073,735 - 32,446,830CLINVAR
Build 361528,861,027 - 30,234,122CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489819
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.