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Variant : CV161990 (GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3) Homo sapiens

Symbol: CV161990
Name: GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3
Condition: See cases [RCV000140834]
Clinical Significance: uncertain significance
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   BUB1   CCDC138   CD8B2   EDAR   FBLN7   GACAT1   GCC2   GCC2-AS1   LIMS1   LIMS1-AS1   LIMS3   LIMS4   LINC01106   LINC01123   LINC01593   LINC01594   LINC01789   LINC01885   LINC01886   MALL   MERTK   MIR4265   MIR4266   MIR4267   MIR4435-2   MIR4435-2HG   MIR4436B1   MIR4436B2   MIR4771-2   MTLN   NPHP1   RANBP2   RGPD3   RGPD4   RGPD4-AS1   RGPD5   RGPD6   RGPD8   SEPTIN10   SH3RF3   SH3RF3-AS1   SLC5A7   SNORD132   SOCAR   SOWAHC   ST6GAL2   SULT1C2   SULT1C3   SULT1C4   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_106428663)_(112379067_?)dup
NC_000002.11:g.(?_107045119)_(113136644_?)dup
NC_000002.10:g.(?_106411551)_(112853115_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382106,428,663 - 112,379,067CLINVAR
GRCh372107,045,119 - 113,136,644CLINVAR
Build 362106,411,551 - 112,853,115CLINVAR
Cytogenetic Map22q12.2-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488362
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.