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Variant : CV554715 (GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3) Homo sapiens

Symbol: CV554715
Name: GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3
Condition: not provided [RCV000683020]
Clinical Significance: pathogenic
Last Evaluated: 08/04/2017
Review Status: no assertion criteria provided
Related Genes: ADCK5   ARHGAP39   BOP1   C8orf31   C8orf33   C8orf82   CCDC166   COMMD5   CPSF1   CYC1   CYHR1   CYP11B1   CYP11B2   DGAT1   EEF1D   EPPK1   EXOSC4   FAM83H   FBXL6   FOXH1   GLI4   GML   GPAA1   GPIHBP1   GPT   GRINA   GSDMD   HGH1   HSF1   KIFC2   LRRC14   LRRC24   LY6D   LY6E   LY6H   LYNX1   LYPD2   MAF1   MAFA   MAPK15   MFSD3   MIR1234   MIR661   MROH1   MROH6   NAPRT   NRBP2   OPLAH   PARP10   PLEC   PPP1R16A   PUF60   PYCR3   RECQL4   RHPN1   RPL8   SCRIB   SCRT1   SCX   SHARPIN   SLC39A4   SLC52A2   SLURP1   SPATC1   THEM6   TIGD5   TMEM249   TONSL   TOP1MT   TSTA3   VPS28   ZC3H3   ZFP41   ZNF16   ZNF250   ZNF251   ZNF34   ZNF517   ZNF623   ZNF696   ZNF7   ZNF707  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh378143,815,037 - 146,295,771CLINVAR
Cytogenetic Map88q24.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795963
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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