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

Variant : CV74353 (GRCh38/hg38 11q13.2(chr11:67016543-67256428)x3) Homo sapiens

Symbol: CV74353
Name: GRCh38/hg38 11q13.2(chr11:67016543-67256428)x3
Condition: See cases [RCV000053624]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: KDM2A   MIR6860   RHOD   SYT12  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_67016543)_(67256428_?)dup
NC_000011.9:g.(?_66784014)_(67023899_?)dup
NC_000011.8:g.(?_66540590)_(66780475_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381167,016,543 - 67,256,428CLINVAR
GRCh371166,784,014 - 67,023,899CLINVAR
Build 361166,540,590 - 66,780,475CLINVAR
Cytogenetic Map1111q13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620543
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE



NHLBI Logo

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