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Variant : CV156486 (GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1) Homo sapiens

Symbol: CV156486
Name: GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1
Condition: See cases [RCV000135981]
Clinical Significance: pathogenic
Last Evaluated: 10/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRB1   ARC   C8orf31   CCDC166   CYP11B1   CYP11B2   EEF1D   EPPK1   FAM83H   GFUS   GLI4   GML   GPIHBP1   GRINA   GSDMD   IQANK1   JRK   LINC00051   LINC02878   LNCOC1   LY6D   LY6E   LY6E-DT   LY6H   LY6K   LY6L   LYNX1   LYNX1-SLURP2   LYPD2   MAFA   MAFA-AS1   MAPK15   MINCR   MIR4664   MIR661   MIR6845   MIR937   MROH6   NAPRT   NRBP2   PARP10   PLEC   PSCA   PUF60   PYCR3   RHPN1   RHPN1-AS1   SCRIB   SLURP1   SLURP2   SNORD149   THEM6   TIGD5   TOP1MT   TSNARE1   ZC3H3   ZFP41   ZNF623   ZNF696   ZNF707  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_142201468)_(144002730_?)del
NC_000008.10:g.(?_143282829)_(145076898_?)del
NC_000008.9:g.(?_143280736)_(145148886_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,201,468 - 144,002,730CLINVAR
GRCh378143,282,829 - 145,076,898CLINVAR
Build 368143,280,736 - 145,148,886CLINVAR
Cytogenetic Map88q24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483545
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.