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Variant : CV74330 (GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3) Homo sapiens

Symbol: CV74330
Name: GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3
Condition: Abnormality of the heart [RCV000053599]|See cases [RCV000053599]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM28   ADAM7   ADAMDEC1   ADRA1A   AGPAT5   ANGPT2   ARHGEF10   ASAH1   ATP6V1B2   BIN3   BIN3-IT1   BLK   BMP1   BNIP3L   C8orf48   C8orf49   C8orf58   C8orf74   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLDN23   CLN8   CLU   CNOT7   CSGALNACT1   CSMD1   CTSB   DCTN6   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB130A   DEFB130B   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   DLC1   DLGAP2   DLGAP2-AS1   DMTN   DOCK5   DOK2   DPYSL2   DUSP4   EBF2   EGR3   ELP3   ENTPD4   EPHX2   ERI1   ERICH1   ESCO2   EXTL3   EXTL3-AS1   FAM160B2   FAM167A   FAM167A-AS1   FAM66A   FAM66B   FAM66D   FAM66E   FAM85A   FAM85B   FAM86B1   FAM86B2   FAM87A   FBXO16   FBXO25   FDFT1   FGF17   FGF20   FGL1   FZD3   GATA4   GFRA2   GNRH1   GTF2E2   HMBOX1   HR   INTS10   INTS9   KBTBD11   KBTBD11-OT1   KCTD9   KIF13B   LEPROTL1   LGI3   LINC00208   LINC00589   LINC00681   LINC00965   LINC02099   LINC02153   LINC02209   LONRF1   LOXL2   LPL   LZTS1   LZTS1-AS1   MBOAT4   MCPH1   MCPH1-AS1   MFHAS1   MICU3   MIR124-1   MIR124-1HG   MIR1322   MIR3148   MIR320A   MIR3622A   MIR3622B   MIR3674   MIR383   MIR3926-1   MIR3926-2   MIR4286   MIR4287   MIR4288   MIR4659A   MIR4659B   MIR4660   MIR548H4   MIR548I3   MIR548V   MIR5692A2   MIR596   MIR597   MIR598   MIR6841   MIR6842   MIR6843   MIR6876   MIR7160   MIR8055   MSR1   MSRA   MTMR7   MTMR9   MTUS1   MYOM2   NAT1   NAT2   NEFL   NEFM   NEIL2   NKX2-6   NKX3-1   NPM2   NUDT18   NUGGC   OR4F21   PBK   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PINX1   PIWIL2   PNMA2   PNOC   POLR3D   PPP1R3B   PPP2R2A   PPP3CC   PRAG1   PRR23D1   PRR23D2   PRSS51   PRSS55   PSD3   PTK2B   R3HCC1   RBPMS   RBPMS-AS1   REEP4   RHOBTB2   RP1L1   SARAF   SCARA3   SCARA5   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC35G5   SLC39A14   SLC7A2   SNORA99   SNORD3F   SNORD3I   SORBS3   SOX7   SPAG11A   SPAG11B   STC1   STMN4   TDRP   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TNKS   TRIM35   TRMT9B   TUSC3   USP17L1   USP17L2   USP17L3   USP17L4   USP17L7   USP17L8   VPS37A   XKR5   XKR6   XPO7   ZDHHC2   ZNF395   ZNF596   ZNF705B   ZNF705D   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_96310)_(30614703_?)dup
NC_000008.10:g.(?_46310)_(30472220_?)dup
NC_000008.9:g.(?_36310)_(30591762_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38896,310 - 30,614,703CLINVAR
GRCh37846,310 - 30,472,220CLINVAR
Build 36836,310 - 30,591,762CLINVAR
Cytogenetic Map88p23.3-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620520
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.