Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV216077 (GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3) Homo sapiens

Symbol: CV216077
Name: GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3
Condition: See cases [RCV000203434]
Clinical Significance: pathogenic
Last Evaluated: 07/13/2015
Review Status: criteria provided, single submitter
Related Genes: ADAM28   ADAM7   ADAMDEC1   ADRA1A   BIN3   BMP1   BNIP3L   C8orf58   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLU   DMTN   DOCK5   DOK2   DPYSL2   EBF2   EGR3   ELP3   ENTPD4   EPHX2   ESCO2   EXTL3   FAM160B2   FBXO16   FGF17   FZD3   GFRA2   GNRH1   HMBOX1   HR   INTS9   KCTD9   KIF13B   LGI3   LOXL2   MIR320A   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NUDT18   NUGGC   PBK   PDLIM2   PEBP4   PHYHIP   PIWIL2   PNMA2   PNOC   POLR3D   PPP2R2A   PPP3CC   PTK2B   R3HCC1   REEP4   RHOBTB2   SCARA3   SCARA5   SFTPC   SLC25A37   SLC39A14   SORBS3   STC1   STMN4   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRIM35   XPO7   ZNF395  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37820,478,546 - 28,986,438CLINVAR
Cytogenetic Map88p21.3-12CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 10766511
Created: 2016-02-09
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.