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Variant : CV160273 (GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3) Homo sapiens

Symbol: CV160273
Name: GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3
Condition: See cases [RCV000139362]
Clinical Significance: pathogenic
Last Evaluated: 07/05/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCG4   ACRV1   ARCN1   ARHGEF12   ATP5MG   BCL9L   BLID   BSX   C1QTNF5   C2CD2L   CBL   CCDC15   CCDC153   CCDC84   CD3D   CD3E   CD3G   CDON   CEP164   CHEK1   CLMP   CRTAM   CXCR5   DCPS   DDX25   DDX6   DPAGT1   DSCAML1   EI24   ESAM   FAM118B   FEZ1   FOXR1   FOXRED1   FXYD2   FXYD6   FXYD6-FXYD2   GRAMD1B   GRIK4   GSEC   H2AX   HEPACAM   HEPN1   HINFP   HMBS   HSPA8   HYLS1   HYOU1   IFT46   IL10RA   JAML   JHY   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   KMT2A   LINC02712   LINC02727   LINC02744   LOC403312   MCAM   MFRP   MIR100   MIR100HG   MIR10526   MIR125B1   MIR3167   MIR4492   MIR4493   MIR6716   MIR6756   MIRLET7A2   MPZL2   MPZL3   MSANTD2   NECTIN1   NECTIN1-AS1   NLRX1   NRGN   OAF   OR10D3   OR10G4   OR10G6   OR10G7   OR10G8   OR10G9   OR10S1   OR4D5   OR6M1   OR6T1   OR6X1   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   OR8D1   OR8D2   OR8D4   OR8G1   OR8G2P   OR8G5   PANX3   PATE1   PATE2   PATE3   PATE4   PDZD3   PHLDB1   PKNOX2   PKNOX2-AS1   POU2F3   PUS3   RNF26   ROBO3   ROBO4   RPS25   RPUSD4   SC5D   SCN2B   SCN3B   SCN4B   SIAE   SLC37A2   SLC37A4   SMIM35   SNORD14C   SNORD14D   SNORD14E   SNORD150   SORL1   SPA17   SRPRA   ST3GAL4   STT3A   STT3A-AS1   TBCEL   TBRG1   TECTA   THY1   TIRAP   TLCD5   TMEM218   TMEM225   TMEM25   TMPRSS13   TMPRSS4   TRAPPC4   TREH   TRIM29   TRK-TTT2-1   TTC36   UBASH3B   UBE4A   UPK2   USP2   USP2-AS1   VPS11   VSIG10L2   VSIG2   VWA5A   ZNF202  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_117333952)_(127709156_?)dup
NC_000011.9:g.(?_117204668)_(127579051_?)dup
NC_000011.8:g.(?_116709878)_(127084261_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811117,333,952 - 127,709,156CLINVAR
GRCh3711117,204,668 - 127,579,051CLINVAR
Build 3611116,709,878 - 127,084,261CLINVAR
Cytogenetic Map1111q23.3-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486893
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.