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Variant : CV170915 (GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3) Homo sapiens

Symbol: CV170915
Name: GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3
Condition: See cases [RCV000148276]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCG4   ACAD8   ACRV1   ADAMTS15   ADAMTS8   APLP2   APOA1-AS   ARCN1   ARHGAP32   ARHGEF12   ATP5MG   B3GAT1   B3GAT1-DT   BACE1   BACE1-AS   BARX2   BCL9L   BLID   BSX   C11orf45   C1QTNF5   C2CD2L   CBL   CCDC15   CCDC153   CCDC84   CD3D   CD3E   CD3G   CDON   CEP164   CHEK1   CLMP   CRTAM   CXCR5   DCPS   DDX25   DDX6   DPAGT1   DSCAML1   EI24   ESAM   ETS1   ETS1-AS1   FAM118B   FEZ1   FLI1   FOXR1   FOXRED1   FRA11B   FXYD2   FXYD6   FXYD6-FXYD2   GLB1L2   GLB1L3   GRAMD1B   GRIK4   GSEC   H2AX   HEPACAM   HEPN1   HINFP   HMBS   HSPA8   HYLS1   HYOU1   IFT46   IGSF9B   IL10RA   JAM3   JAML   JHY   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   KMT2A   LINC00167   LINC01395   LINC02098   LINC02551   LINC02697   LINC02706   LINC02712   LINC02714   LINC02725   LINC02727   LINC02731   LINC02743   LINC02744   LINC02873   LOC403312   MCAM   MFRP   MIR100   MIR100HG   MIR10526   MIR125B1   MIR3167   MIR4492   MIR4493   MIR4697   MIR6090   MIR6716   MIR6756   MIR8052   MIRLET7A2   MPZL2   MPZL3   MSANTD2   NCAPD3   NECTIN1   NECTIN1-AS1   NFRKB   NLRX1   NRGN   NTM   NTM-AS1   NTM-IT   OAF   OPCML   OR10D3   OR10G4   OR10G6   OR10G7   OR10G8   OR10G9   OR10S1   OR4D5   OR6M1   OR6T1   OR6X1   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   OR8D1   OR8D2   OR8D4   OR8G1   OR8G2P   OR8G5   PAFAH1B2   PANX3   PATE1   PATE2   PATE3   PATE4   PCSK7   PDZD3   PHLDB1   PKNOX2   PKNOX2-AS1   POU2F3   PRDM10   PUS3   RNF214   RNF26   ROBO3   ROBO4   RPS25   RPUSD4   SC5D   SCN2B   SCN3B   SCN4B   SENCR   SIAE   SIDT2   SIK3   SLC37A2   SLC37A4   SMIM35   SNORD14C   SNORD14D   SNORD14E   SNORD150   SNORD153   SNX19   SORL1   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   STT3A-AS1   TAGLN   TBCEL   TBRG1   TECTA   THY1   THYN1   TIRAP   TLCD5   TMEM218   TMEM225   TMEM25   TMEM45B   TMPRSS13   TMPRSS4   TP53AIP1   TRAPPC4   TREH   TRIM29   TRK-TTT2-1   TTC36   UBASH3B   UBE4A   UPK2   USP2   USP2-AS1   VPS11   VPS26B   VSIG10L2   VSIG2   VWA5A   ZBTB44   ZBTB44-DT   ZNF202  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_116851395)_(134998513_?)dup
NC_000011.9:g.(?_116722111)_(134868407_?)dup
NC_000011.8:g.(?_116227321)_(134373617_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811116,851,395 - 134,998,513CLINVAR
GRCh3711116,722,111 - 134,868,407CLINVAR
Build 3611116,227,321 - 134,373,617CLINVAR
Cytogenetic Map1111q23.3-25CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9684825
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.