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Variant : CV41783 (GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3) Homo sapiens

Symbol: CV41783
Name: GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3
Condition: See cases [RCV000050484]
Clinical Significance: benign|conflicting interpretations of pathogenicity|conflicting data from submitters
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   FAM66E   FAM85B   MIR548I3   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L3   USP17L8   ZNF705B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7411297)_(8222398_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3887,411,297 - 8,222,398CLINVAR
GRCh3787,268,819 - 8,079,920CLINVAR
Build 3687,256,229 - 8,117,330CLINVAR
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: 8617665
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


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