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

Variant : CV163385 (GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1) Homo sapiens

Symbol: CV163385
Name: GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1
Condition: See cases [RCV000141950]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC138   EDAR   LIMS1   LIMS1-AS1   LOC112695112   LOC112695113   LOC112695114   LOC112695115   MIR4265   MIR4266   RANBP2   SEPTIN10   SH3RF3   SH3RF3-AS1   SOWAHC  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_108660713)_(109735214_?)del
Human AssemblyChrPosition (strand)Source
GRCh382108,660,713 - 109,735,214CLINVAR
GRCh372109,277,169 - 110,492,791CLINVAR
Build 362108,643,601 - 109,850,080CLINVAR
Cytogenetic Map22q12.3-13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489471
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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