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Variant : CV40826 (GRCh38/hg38 2q13(chr2:110104900-110371270)x3) Homo sapiens

Symbol: CV40826
Name: GRCh38/hg38 2q13(chr2:110104900-110371270)x3
Condition: Global developmental delay [RCV000050264]|See cases [RCV000050264]
Clinical Significance: benign
Last Evaluated: 07/16/2013
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: MALL   MIR4436B2   MTLN   NPHP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110104900)_(110371270_?)dup
NC_000002.11:g.(?_110862477)_(111128847_?)dup
NC_000002.10:g.(?_110219766)_(110563384_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,104,900 - 110,371,270CLINVAR
GRCh372110,862,477 - 111,128,847CLINVAR
Build 362110,219,766 - 110,563,384CLINVAR
Cytogenetic Map22q13CLINVAR
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: 8617552
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



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