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Variant : CV72084 (GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3) Homo sapiens

Symbol: CV72084
Name: GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3
Condition: Global developmental delay [RCV000051199]|See cases [RCV000051199]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AP1B1   ASCC2   CABP7   EWSR1   GAS2L1   NEFH   NF2   NIPSNAP1   RASL10A   RFPL1   RFPL1S   SNORD125   THOC5   UQCR10   ZMAT5  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_29281920)_(29878399_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382229,281,920 - 29,878,399CLINVAR
GRCh372229,677,909 - 30,274,388CLINVAR
Build 362228,007,909 - 28,604,388CLINVAR
Cytogenetic Map2222q12.2CLINVAR
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: 8618239
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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