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Variant : CV159771 (GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3) Homo sapiens

Symbol: CV159771
Name: GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3
Condition: See cases [RCV000138939]
Clinical Significance: uncertain significance
Last Evaluated: 09/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADARB1   FAM207A   ITGB2   ITGB2-AS1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LINC00163   LINC01424   LINC01547   PICSAR   PTTG1IP   SUMO3   TSPEAR   UBE2G2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_44576109)_(45204790_?)dup
NC_000021.8:g.(?_45995986)_(46624705_?)dup
NC_000021.7:g.(?_44820414)_(45449133_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,576,109 - 45,204,790CLINVAR
GRCh372145,995,986 - 46,624,705CLINVAR
Build 362144,820,414 - 45,449,133CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486471
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.