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Variant : CV158748 (GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3) Homo sapiens

Symbol: CV158748
Name: GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3
Condition: See cases [RCV000138058]
Clinical Significance: pathogenic
Last Evaluated: 01/03/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC015468.1   AC021355.1   AC022832.2   AC024958.1   AC037441.1   AC090197.1   AC100861.1   AC105206.2   AC107959.4   AC123777.1   AC124242.1   AC131254.1   ADAM28   ADAM7   ADAMDEC1   ADRA1A   ASAH1   ATP6V1B2   BIN3   BIN3-IT1   BMP1   BNIP3L   C8orf48   C8orf58   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLU   CNOT7   CSGALNACT1   DCTN6   DLC1   DMTN   DOCK5   DOK2   DPYSL2   DUSP26   DUSP4   EBF2   EGR3   ELP3   ENTPD4   EPHX2   ESCO2   EXTL3   EXTL3-AS1   FAM160B2   FBXO16   FGF17   FGF20   FGL1   FUT10   FZD3   GFRA2   GNRH1   GSR   GTF2E2   HMBOX1   HR   INTS10   INTS9   KCTD9   KIF13B   LEPROTL1   LGI3   LINC00589   LINC00681   LINC01288   LINC02099   LINC02153   LINC02209   LOC100128993   LOC101929294   LOC105379331   LOC107986876   LOC108004525   LOC108254664   LOC110120768   LOC110120769   LOC110120770   LOC110121062   LOC110121192   LOC110121196   LOC110121233   LOC111255642   LOC111255645   LOC111465018   LOC113788268   LOC113788269   LOC113788270   LOC113788271   LOC113788272   LOC113788273   LOC113788274   LOC113788275   LOC113788276   LOC114004413   LOC114827823   LOC116186922   LOC116186923   LOC116186924   LOC116186925   LOC116186926   LONRF1   LOXL2   LPL   LZTS1   LZTS1-AS1   MAK16   MBOAT4   MICU3   MIR3148   MIR320A   MIR3622A   MIR3622B   MIR383   MIR3926-1   MIR3926-2   MIR4287   MIR4288   MIR548H4   MIR548V   MIR5692A2   MIR6841   MIR6842   MIR6843   MIR6876   MSR1   MTMR7   MTUS1   NAT1   NAT2   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NRG1   NRG1-IT1   NRG1-IT3   NUDT18   NUGGC   PBK   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   PNMA2   PNOC   POLR3D   PPP2CB   PPP2R2A   PPP3CC   PSD3   PTK2B   PURG   R3HCC1   RBPMS   RBPMS-AS1   REEP4   RHOBTB2   RNF122   SARAF   SCARA3   SCARA5   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SMIM18   SNORD13   SNORD3F   SORBS3   STC1   STMN4   TEX15   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRIM35   TRMT9B   TTI2   TUSC3   UBXN8   UNC5D   VPS37A   WRN   XPO7   ZDHHC2   ZNF395  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_12698495)_(35476082_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38812,698,495 - 35,476,082CLINVAR
GRCh37812,556,004 - 35,333,600CLINVAR
Build 36812,600,375 - 35,453,142CLINVAR
Cytogenetic Map88p23.1-12CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9485607
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.