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Variant : CV40803 (GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1) Homo sapiens

Symbol: CV40803
Name: GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1
Condition: See cases [RCV000050573]
Clinical Significance: benign
Last Evaluated: 09/18/2013
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB4A   DEFB4B   PRR23D1   PRR23D2   SPAG11A   SPAG11B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7411297)_(7895064_?)del
Human AssemblyChrPosition (strand)Source
GRCh3887,411,297 - 7,895,064CLINVAR
GRCh3787,268,819 - 7,752,586CLINVAR
Build 3687,256,229 - 7,789,996CLINVAR
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: 8617695
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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