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Variant : CV157131 (GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3) Homo sapiens

Symbol: CV157131
Name: GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3
Condition: See cases [RCV000136575]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC138   EDAR   LIMS1   LOC112695113   LOC112695114   LOC112695115   MIR4265   MIR4266   RANBP2   SEPTIN10   SH3RF3   SH3RF3-AS1   SOWAHC  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_108681906)_(109700179_?)dup
NC_000002.11:g.(?_109298362)_(110457756_?)dup
NC_000002.10:g.(?_108664794)_(109815045_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382108,681,906 - 109,700,179CLINVAR
GRCh372109,298,362 - 110,457,756CLINVAR
Build 362108,664,794 - 109,815,045CLINVAR
Cytogenetic Map22q12.3-13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484136
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE



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