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Variant : CV164434 (GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1) Homo sapiens

Symbol: CV164434
Name: GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1
Condition: See cases [RCV000142747]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM28   ADAM7   ADAMDEC1   ADRA1A   ATP6V1B2   BIN3   BIN3-IT1   BMP1   BNIP3L   C8orf58   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLU   CSGALNACT1   DCTN6   DMTN   DOCK5   DOK2   DPYSL2   DUSP26   DUSP4   EBF2   EGR3   ELP3   ENTPD4   EPHX2   ESCO2   EXTL3   EXTL3-AS1   FAM160B2   FBXO16   FGF17   FUT10   FZD3   GFRA2   GNRH1   GSR   GTF2E2   HMBOX1   HR   INTS10   INTS9   KCTD9   KIF13B   LEPROTL1   LGI3   LINC00589   LINC02099   LINC02153   LINC02209   LOXL2   LPL   LZTS1   LZTS1-AS1   MAK16   MBOAT4   MIR3148   MIR320A   MIR3622A   MIR3622B   MIR4287   MIR4288   MIR548H4   MIR6841   MIR6842   MIR6843   MIR6876   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NRG1   NRG1-IT1   NRG1-IT3   NUDT18   NUGGC   PBK   PDLIM2   PEBP4   PHYHIP   PIWIL2   PNMA2   PNOC   POLR3D   PPP2CB   PPP2R2A   PPP3CC   PSD3   PTK2B   PURG   R3HCC1   RBPMS   RBPMS-AS1   REEP4   RHOBTB2   RNF122   SARAF   SCARA3   SCARA5   SFTPC   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SMIM18   SNORD13   SNORD3F   SORBS3   STC1   STMN4   TEX15   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRIM35   TTI2   UBXN8   WRN   XPO7   ZNF395  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_18972996)_(33619264_?)del
Human AssemblyChrPosition (strand)Source
GRCh38818,972,996 - 33,619,264CLINVAR
GRCh37818,830,506 - 33,476,782CLINVAR
Build 36818,874,786 - 33,596,324CLINVAR
Cytogenetic Map88p22-12CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490345
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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