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

Variant : CV162390 (GRCh38/hg38 12q14.2(chr12:64566551-64687645)x3) Homo sapiens

Symbol: CV162390
Name: GRCh38/hg38 12q14.2(chr12:64566551-64687645)x3
Condition: See cases [RCV000141173]
Clinical Significance: likely benign
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: MIR548C   MIR548Z   RASSF3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_64566551)_(64687645_?)dup
NC_000012.11:g.(?_64960331)_(65081425_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381264,566,551 - 64,687,645CLINVAR
GRCh371264,960,331 - 65,081,425CLINVAR
Build 361263,246,598 - 63,367,692CLINVAR
Cytogenetic Map1212q14.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488700
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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