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

Variant : CV160670 (GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3) Homo sapiens

Symbol: CV160670
Name: GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3
Condition: See cases [RCV000139711]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 05/16/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC81   CCDC83   CCDC89   CREBZF   DLG2   EED   HIKESHI   ME3   MIR6755   PICALM   SYTL2   TMEM126A   TMEM126B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_84765986)_(86641166_?)dup
NC_000011.9:g.(?_84477029)_(86352208_?)dup
NC_000011.8:g.(?_84154677)_(86029856_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381184,765,986 - 86,641,166CLINVAR
GRCh371184,477,029 - 86,352,208CLINVAR
Build 361184,154,677 - 86,029,856CLINVAR
Cytogenetic Map1111q14.1-14.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487241
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

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