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

Variant : CV158376 (GRCh38/hg38 12p13.33(chr12:80412-2850599)x1) Homo sapiens

Symbol: CV158376
Name: GRCh38/hg38 12p13.33(chr12:80412-2850599)x1
Condition: See cases [RCV000137693]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/29/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADIPOR2   B4GALNT3   CACNA1C   CACNA1C-AS1   CACNA1C-AS2   CACNA1C-AS4   CACNA1C-IT1   CACNA1C-IT2   CACNA1C-IT3   CACNA2D4   CCDC77   DCP1B   ERC1   FBXL14   FKBP4   IQSEC3   ITFG2   ITFG2-AS1   KDM5A   LINC00940   LINC00942   LINC02455   LRTM2   MIR3649   NINJ2   NINJ2-AS1   NRIP2   RAD52   SLC6A12   SLC6A13   TEX52   WNK1   WNT5B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_80412)_(2850599_?)del
NC_000012.11:g.(?_282465)_(2959765_?)del
NC_000012.10:g.(?_59839)_(2830026_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381280,412 - 2,850,599CLINVAR
GRCh3712282,465 - 2,959,765 (+)CLINVAR
Build 361259,839 - 2,830,026CLINVAR
Cytogenetic Map1212p13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485245
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



NHLBI Logo

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