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Variant : CV158016 (GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3) Homo sapiens

Symbol: CV158016
Name: GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3
Condition: See cases [RCV000137340]
Clinical Significance: likely pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADCK5   ADGRB1   AGO2   ARC   ARHGAP39   BOP1   C8orf17   C8orf31   C8orf82   CCDC166   CHRAC1   COMMD5   CPSF1   CYC1   CYHR1   CYP11B1   CYP11B2   DENND3   DGAT1   EEF1D   EPPK1   EXOSC4   FAM83H   FAM83H-AS1   FBXL6   FOXH1   GLI4   GML   GPAA1   GPIHBP1   GPR20   GPT   GRINA   GSDMD   HGH1   HSF1   IQANK1   JRK   KCNK9   KIFC2   LINC00051   LINC01300   LINC02878   LNCOC1   LRRC14   LRRC24   LY6D   LY6E   LY6E-DT   LY6H   LY6K   LY6L   LYNX1   LYNX1-SLURP2   LYPD2   MAF1   MAFA   MAFA-AS1   MAPK15   MFSD3   MINCR   MIR10400   MIR1234   MIR1302-7   MIR151A   MIR4472-1   MIR4664   MIR661   MIR6845   MIR6846   MIR6847   MIR6848   MIR6849   MIR6850   MIR6893   MIR7112   MIR937   MIR939   MROH1   MROH5   MROH6   NAPRT   NRBP2   OPLAH   PARP10   PEG13   PLEC   PPP1R16A   PSCA   PTK2   PTP4A3   PUF60   PYCR3   RECQL4   RHPN1   RHPN1-AS1   RPL8   SCRIB   SCRT1   SCX   SHARPIN   SLC39A4   SLC45A4   SLC52A2   SLURP1   SLURP2   SNORD149   SPATC1   THEM6   TIGD5   TMEM249   TONSL   TONSL-AS1   TOP1MT   TRAPPC9   TSNARE1   TSTA3   VPS28   WDR97   ZC3H3   ZFP41   ZNF16   ZNF250   ZNF251   ZNF252P-AS1   ZNF34   ZNF517   ZNF623   ZNF696   ZNF7   ZNF707  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_139004218)_(145049449_?)dup
NC_000008.10:g.(?_140016461)_(146274835_?)dup
NC_000008.9:g.(?_140085643)_(146245639_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388139,004,218 - 145,049,449CLINVAR
GRCh378140,016,461 - 146,274,835CLINVAR
Build 368140,085,643 - 146,245,639CLINVAR
Cytogenetic Map88q24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484897
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-04
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.