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Variant : CV160884 (GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3) Homo sapiens

Symbol: CV160884
Name: GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3
Condition: See cases [RCV000139891]
Clinical Significance: pathogenic
Last Evaluated: 02/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC015468.1   AC021355.1   AC022784.1   AC022832.2   AC024958.1   AC037441.1   AC068587.4   AC090197.1   AC100861.1   AC105001.1   AC105206.2   AC107959.4   AC123777.1   AC124242.1   AC131254.1   AC138356.1   ADAM28   ADAM7   ADAMDEC1   ADGRA2   ADRA1A   ADRB3   AF131215.3   AF131216.3   ASAH1   ASH2L   ATP6V1B2   BAG4   BIN3   BIN3-IT1   BLK   BMP1   BNIP3L   BRF2   C8orf48   C8orf49   C8orf58   C8orf74   C8orf86   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLDN23   CLU   CNOT7   CRE3   CSGALNACT1   CTSB   DCTN6   DDHD2   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB130A   DEFB130B   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   DLC1   DMTN   DOCK5   DOK2   DPYSL2   DUSP26   DUSP4   EBF2   EGR3   EIF4EBP1   ELP3   ENTPD4   EPHX2   ERI1   ERLIN2   ESCO2   EXTL3   EXTL3-AS1   FAM160B2   FAM167A   FAM167A-AS1   FAM66A   FAM66B   FAM66D   FAM66E   FAM85A   FAM85B   FAM86B1   FAM86B2   FBXO16   FDFT1   FGF17   FGF20   FGFR1   FGL1   FUT10   FZD3   GATA4   GFRA2   GNRH1   GOT1L1   GSR   GTF2E2   HMBOX1   HR   INTS10   INTS9   KCNU1   KCTD9   KIF13B   LEPROTL1   LETM2   LGI3   LINC00208   LINC00589   LINC00681   LINC00965   LINC01288   LINC01605   LINC02099   LINC02153   LINC02209   LINCR-0001   LOC100128993   LOC100506990   LOC101928095   LOC101929229   LOC101929294   LOC101929550   LOC101929622   LOC105379331   LOC107133509   LOC107986876   LOC108004525   LOC108254664   LOC108281187   LOC108863620   LOC110120654   LOC110120689   LOC110120721   LOC110120768   LOC110120769   LOC110120770   LOC110120781   LOC110121062   LOC110121182   LOC110121192   LOC110121196   LOC110121233   LOC110121280   LOC110121281   LOC111255642   LOC111255645   LOC111365225   LOC111465018   LOC111818956   LOC113788244   LOC113788245   LOC113788246   LOC113788268   LOC113788269   LOC113788270   LOC113788271   LOC113788272   LOC113788273   LOC113788274   LOC113788275   LOC113788276   LOC113788277   LOC113788278   LOC113788279   LOC113788294   LOC114004413   LOC114827823   LOC116186920   LOC116186921   LOC116186922   LOC116186923   LOC116186924   LOC116186925   LOC116186926   LOC116186927   LONRF1   LOXL2   LPL   LSM1   LZTS1   LZTS1-AS1   MAK16   MBOAT4   MFHAS1   MICU3   MIR124-1   MIR124-1HG   MIR1322   MIR3148   MIR320A   MIR3622A   MIR3622B   MIR383   MIR3926-1   MIR3926-2   MIR4286   MIR4287   MIR4288   MIR4660   MIR548H4   MIR548I3   MIR548V   MIR5692A2   MIR597   MIR598   MIR6841   MIR6842   MIR6843   MIR6876   MSR1   MSRA   MTMR7   MTMR9   MTUS1   NAT1   NAT2   NEFL   NEFM   NEIL2   NKX2-6   NKX3-1   NPM2   NRG1   NRG1-IT1   NRG1-IT3   NSD3   NUDT18   NUGGC   PBK   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PINX1   PIWIL2   PLPBP   PLPP5   PNMA2   PNOC   POLR3D   PPP1R3B   PPP2CB   PPP2R2A   PPP3CC   PRAG1   PRR23D1   PRR23D2   PRSS51   PRSS55   PSD3   PTK2B   PURG   R3HCC1   RAB11FIP1   RBPMS   RBPMS-AS1   REEP4   RHOBTB2   RNF122   RP1L1   SARAF   SCARA3   SCARA5   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC35G5   SLC39A14   SLC7A2   SMIM18   SNORA99   SNORD13   SNORD3F   SNORD3I   SORBS3   SOX7   SPAG11A   SPAG11B   STAR   STC1   STMN4   TEX15   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TNKS   TRIM35   TRMT9B   TTI2   TUSC3   UBXN8   UNC5D   USP17L1   USP17L2   USP17L3   USP17L4   USP17L7   USP17L8   VPS37A   WRN   XKR6   XPO7   ZDHHC2   ZNF395   ZNF703   ZNF705B   ZNF705D   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7141697)_(38695546_?)dup
NC_000008.10:g.(?_6999219)_(38553064_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3887,141,697 - 38,695,546CLINVAR
GRCh3786,999,219 - 38,553,064CLINVAR
Build 3686,986,629 - 38,672,221CLINVAR
Cytogenetic Map88p23.1-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487421
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
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.