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Variant : CV163603 (GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1) Homo sapiens

Symbol: CV163603
Name: GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1
Condition: See cases [RCV000142089]
Clinical Significance: uncertain significance
Last Evaluated: 09/23/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC138   EDAR   GCC2-AS1   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.(?_108526866)_(109746741_?)del
Human AssemblyChrPosition (strand)Source
GRCh382108,526,866 - 109,746,741CLINVAR
GRCh372109,143,322 - 110,504,318CLINVAR
Build 362108,509,754 - 109,861,607CLINVAR
Cytogenetic Map22q12.3-13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489609
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.