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Variant : CV160505 (GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3) Homo sapiens

Symbol: CV160505
Name: GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3
Condition: See cases [RCV000139569]
Clinical Significance: uncertain significance
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC013271.1   CCDC138   CD8B2   EDAR   GACAT1   GCC2   GCC2-AS1   LIMS1   LIMS1-AS1   LIMS3   LIMS4   LINC01106   LINC01123   LINC01593   LINC01594   LINC01789   LINC01885   LINC01886   LOC107305684   LOC107305685   LOC107305686   LOC112695112   LOC112695113   LOC112695114   LOC112695115   MALL   MIR4265   MIR4266   MIR4267   MIR4436B1   MIR4436B2   MTLN   NPHP1   RANBP2   RGPD4   RGPD4-AS1   RGPD5   RGPD6   SEPTIN10   SH3RF3   SH3RF3-AS1   SLC5A7   SOWAHC   ST6GAL2   SULT1C2   SULT1C3   SULT1C4  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_106516472)_(110576905_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382106,516,472 - 110,576,905 (+)CLINVAR
GRCh372107,132,928 - 111,334,482 (+)CLINVAR
Build 362106,499,360 - 110,857,227CLINVAR
Cytogenetic Map22q12.2-13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9487100
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.