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Variant : CV170881 (GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1) Homo sapiens

Symbol: CV170881
Name: GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1
Condition: See cases [RCV000148252]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC015468.1   AC016065.1   AC021355.1   AC022784.1   AC022832.2   AC024958.1   AC037441.1   AC068587.4   AC090197.1   AC100861.1   AC104964.1   AC105001.1   AC105206.2   AC107959.4   AC123777.1   AC124242.1   AC246817.1   ADAM28   ADAM7   ADAMDEC1   ADRA1A   AF131215.3   AF131216.3   AF233439.1   AGPAT5   ANGPT2   ASAH1   ATP6V1B2   BIN3   BIN3-IT1   BLK   BMP1   BNIP3L   C8orf48   C8orf49   C8orf58   C8orf74   CCAR2   CDCA2   CHMP7   CHRNA2   CLDN23   CNOT7   CSGALNACT1   CSMD1   CTSB   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   DMTN   DOCK5   DOK2   DPYSL2   EBF2   EGR3   ENTPD4   EPHX2   ERI1   FAM160B2   FAM167A   FAM167A-AS1   FAM66A   FAM66B   FAM66D   FAM66E   FAM85A   FAM85B   FAM86B1   FAM86B2   FDFT1   FGF17   FGF20   FGL1   GATA4   GFRA2   GNRH1   HR   INTS10   KCTD9   LGI3   LINC00208   LINC00681   LINC00965   LINC02153   LONRF1   LOXL2   LPL   LZTS1   LZTS1-AS1   MCPH1   MCPH1-AS1   MFHAS1   MICU3   MIR124-1   MIR124-1HG   MIR1322   MIR320A   MIR383   MIR3926-1   MIR3926-2   MIR4286   MIR4659A   MIR4659B   MIR4660   MIR548H4   MIR548I3   MIR548V   MIR5692A2   MIR597   MIR598   MIR6841   MIR6842   MIR6876   MIR8055   MSR1   MSRA   MTMR7   MTMR9   MTUS1   NAT1   NAT2   NEFL   NEFM   NEIL2   NKX2-6   NKX3-1   NPM2   NUDT18   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PINX1   PIWIL2   PNMA2   POLR3D   PPP1R3B   PPP2R2A   PPP3CC   PRAG1   PRR23D1   PRR23D2   PRSS51   PRSS55   PSD3   PTK2B   R3HCC1   REEP4   RHOBTB2   RP1L1   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC35G5   SLC39A14   SLC7A2   SNORA99   SNORD3F   SNORD3I   SORBS3   SOX7   SPAG11A   SPAG11B   STC1   STMN4   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TNKS   TRIM35   TRMT9B   TUSC3   USP17L1   USP17L2   USP17L3   USP17L4   USP17L7   USP17L8   VPS37A   XKR5   XKR6   XPO7   ZDHHC2   ZNF705B   ZNF705D   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_2475295)_(27504279_?)del
NC_000008.10:g.(?_2292235)_(27361796_?)del
NC_000008.9:g.(?_2121457)_(27417713_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3882,475,295 - 27,504,279CLINVAR
GRCh3782,292,235 - 27,361,796CLINVAR
Build 3682,121,457 - 27,417,713CLINVAR
Cytogenetic Map88p23.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9684801
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.