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Variant : CV72995 (GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3) Homo sapiens

Symbol: CV72995
Name: GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3
Condition: See cases [RCV000052154]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 02/05/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC105001.1   AF131215.3   AF131216.3   BLK   C8orf49   C8orf74   CTSB   DEFB135   DEFB136   FAM167A   FAM167A-AS1   FDFT1   GATA4   LINC00208   LINCR-0001   MIR1322   MIR4286   MIR598   MSRA   MTMR9   NEIL2   PINX1   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SOX7   XKR6  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_9970431)_(11984392_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3889,970,431 - 11,984,392CLINVAR
GRCh3789,827,941 - 11,841,901CLINVAR
Build 3689,865,351 - 11,879,310CLINVAR
Cytogenetic Map88p23.1CLINVAR
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
RGD Object Information
RGD ID: 8619158
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


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