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Variant : CV40734 (GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1) Homo sapiens

Symbol: CV40734
Name: GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1
Condition: See cases [RCV000050282]
Clinical Significance: benign
Last Evaluated: 07/10/2013
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   DEFB109B   DEFB4A   DEFB4B   FAM66B   FAM66E   FAM85B   LINC00965   MIR548I3   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L1   USP17L3   USP17L4   USP17L8   ZNF705B   ZNF705G  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7195664)_(8222398_?)del
Human AssemblyChrPosition (strand)Source
GRCh3887,195,664 - 8,222,398CLINVAR
GRCh3787,053,186 - 8,079,920CLINVAR
Build 3687,040,596 - 8,117,330CLINVAR
Cytogenetic Map88p23.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.|1-5 / 10 000

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8617562
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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