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Variant : CV74942 (GRCh38/hg38 8p23.1(chr8:8336212-9953226)x1) Homo sapiens

Symbol: CV74942
Name: GRCh38/hg38 8p23.1(chr8:8336212-9953226)x1
Condition: See cases [RCV000054225]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC022784.1   CLDN23   ERI1   MFHAS1   MIR124-1   MIR124-1HG   MIR4660   MIR597   PPP1R3B   PRAG1   SNORD3I   TNKS  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8336212)_(9953226_?)del
Human AssemblyChrPosition (strand)Source
GRCh3888,336,212 - 9,953,226CLINVAR
GRCh3788,193,728 - 9,810,736CLINVAR
Build 3688,231,138 - 9,848,146CLINVAR
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
CRRD Object Information
CRRD ID: 8621135
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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