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Variant : CV164581 (GRCh38/hg38 14q11.2(chr14:22021665-22398359)x3) Homo sapiens

Symbol: CV164581
Name: GRCh38/hg38 14q11.2(chr14:22021665-22398359)x3
Condition: See cases [RCV000142894]
Clinical Significance: likely benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: TRA   TRAV20   TRAV21   TRAV22   TRAV23DV6   TRAV24   TRAV25   TRAV26-1   TRAV26-2   TRAV27   TRAV29DV5   TRAV30   TRAV34   TRAV35   TRAV36DV7   TRAV38-1   TRAV38-2DV8   TRAV39   TRAV40   TRAV41   TRAV8-7   TRDV1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_22021665)_(22398359_?)dup
NC_000014.8:g.(?_22489905)_(22866762_?)dup
NC_000014.7:g.(?_21559745)_(21936602_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381422,021,665 - 22,398,359CLINVAR
GRCh371422,489,905 - 22,866,762CLINVAR
Build 361421,559,745 - 21,936,602CLINVAR
Cytogenetic Map1414q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490492
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.