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Variant : CV75006 (GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1) Homo sapiens

Symbol: CV75006
Name: GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1
Condition: See cases [RCV000054310]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BOP1   CCDC166   CYC1   EPPK1   EXOSC4   FAM83H   GPAA1   GRINA   HGH1   IQANK1   LINC02878   MAF1   MAPK15   MIR4664   MIR661   MIR6845   MIR6846   MIR6847   MIR7112   MIR937   MROH1   NRBP2   OPLAH   PARP10   PLEC   PUF60   SCRIB   SCX   SHARPIN   SPATC1   WDR97   ZNF707  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_143684819)_(144287978_?)del
Human AssemblyChrPosition (strand)Source
GRCh388143,684,819 - 144,287,978CLINVAR
GRCh378144,940,777 - 145,511,679CLINVAR
Build 368144,838,977 - 145,482,487CLINVAR
Cytogenetic Map88q24.3CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8621200
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


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