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Variant : CV74362 (GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3) Homo sapiens

Symbol: CV74362
Name: GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3
Condition: Micrognathia [RCV000053633]|See cases [RCV000053633]
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   ASAH1   ATP6V1B2   BIN3   BIN3-IT1   BMP1   BNIP3L   C8orf48   C8orf58   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLU   CNOT7   CSGALNACT1   DLC1   DMTN   DOCK5   DOK2   DPYSL2   DUSP4   EBF2   EGR3   ELP3   ENTPD4   EPHX2   ESCO2   EXTL3   EXTL3-AS1   FAM160B2   FBXO16   FGF17   FGF20   FGL1   FZD3   GFRA2   GNRH1   HMBOX1   HR   INTS10   INTS9   KCTD9   KIF13B   LGI3   LINC00681   LINC02153   LONRF1   LOXL2   LPL   LZTS1   LZTS1-AS1   MICU3   MIR320A   MIR3622A   MIR3622B   MIR383   MIR4287   MIR4288   MIR548H4   MIR548V   MIR6841   MIR6842   MIR6843   MIR6876   MSR1   MTMR7   MTUS1   NAT1   NAT2   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NUDT18   NUGGC   PBK   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   PNMA2   PNOC   POLR3D   PPP2R2A   PPP3CC   PSD3   PTK2B   R3HCC1   REEP4   RHOBTB2   SCARA3   SCARA5   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SNORD3F   SORBS3   STC1   STMN4   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRIM35   TRMT9B   TUSC3   VPS37A   XPO7   ZDHHC2   ZNF395  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_12750796)_(29445409_?)dup
NC_000008.10:g.(?_12608305)_(29302926_?)dup
NC_000008.9:g.(?_12652676)_(29358845_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38812,750,796 - 29,445,409CLINVAR
GRCh37812,608,305 - 29,302,926CLINVAR
Build 36812,652,676 - 29,358,845CLINVAR
Cytogenetic Map88p23.1-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620552
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.