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Variant : CV73626 (GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3) Homo sapiens

Symbol: CV73626
Name: GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3
Condition: See cases [RCV000052825]
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: FAM243B   KCNE1B   SMIM11B   SMIM34B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_7743711)_(7865746_?)dup
NC_000021.8:g.(?_35740918)_(35900417_?)dup
NC_000021.7:g.(?_34662788)_(34822287_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38217,743,711 - 7,865,746CLINVAR
GRCh372135,740,918 - 35,900,417CLINVAR
Build 362134,662,788 - 34,822,287CLINVAR
Cytogenetic Map2121p11.2CLINVAR
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
 
RGD Object Information
RGD ID: 8619798
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-24
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.