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Variant : CV158037 (GRCh38/hg38 2q13(chr2:108719125-110611314)x3) Homo sapiens

Symbol: CV158037
Name: GRCh38/hg38 2q13(chr2:108719125-110611314)x3
Condition: See cases [RCV000137361]
Clinical Significance: uncertain significance
Last Evaluated: 07/05/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC013271.1   CCDC138   EDAR   LIMS3   LIMS4   LINC01106   LINC01123   LOC105373553   LOC107305686   LOC112695113   LOC112695114   LOC112695115   MALL   MIR4265   MIR4266   MIR4267   MIR4436B1   MIR4436B2   MTLN   NPHP1   RANBP2   RGPD5   RGPD6   SEPTIN10   SH3RF3   SH3RF3-AS1   SOWAHC  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_108719125)_(110611314_?)dup
NC_000002.11:g.(?_109335581)_(111368891_?)dup
NC_000002.10:g.(?_108702013)_(111085360_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382108,719,125 - 110,611,314CLINVAR
GRCh372109,335,581 - 111,368,891CLINVAR
Build 362108,702,013 - 111,085,360CLINVAR
Cytogenetic Map22q13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484918
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.