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Variant : CV162106 (GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1) Homo sapiens

Symbol: CV162106
Name: GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1
Condition: See cases [RCV000140913]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRB1   ARC   C8orf31   CCDC166   CYC1   CYP11B1   CYP11B2   EEF1D   EPPK1   EXOSC4   FAM83H   FAM83H-AS1   GLI4   GML   GPAA1   GPIHBP1   GRINA   GSDMD   HGH1   IQANK1   JRK   LINC00051   LINC02878   LNCOC1   LY6D   LY6E   LY6E-DT   LY6H   LY6K   LY6L   LYNX1   LYNX1-SLURP2   LYPD2   MAF1   MAFA   MAFA-AS1   MAPK15   MINCR   MIR1302-7   MIR4472-1   MIR4664   MIR661   MIR6845   MIR6846   MIR6847   MIR937   MROH6   NAPRT   NRBP2   OPLAH   PARP10   PLEC   PSCA   PUF60   PYCR3   RHPN1   RHPN1-AS1   SCRIB   SHARPIN   SLURP1   SLURP2   SNORD149   SPATC1   THEM6   TIGD5   TOP1MT   TSNARE1   TSTA3   WDR97   ZC3H3   ZFP41   ZNF623   ZNF696   ZNF707  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_141738068)_(144140607_?)del
NC_000008.10:g.(?_142764538)_(145195510_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388141,738,068 - 144,140,607 (+)CLINVAR
GRCh378142,764,538 - 145,195,510CLINVAR
Build 368142,823,655 - 145,267,498CLINVAR
Cytogenetic Map88q24.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488441
Created: 2014-09-09
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.