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Variant : CV164111 (GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3) Homo sapiens

Symbol: CV164111
Name: GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3
Condition: See cases [RCV000142424]
Clinical Significance: pathogenic
Last Evaluated: 06/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: MBIP   MIPOL1   MIR4503   NKX2-1   NKX2-1-AS1   NKX2-8   PAX9   SFTA3   SLC25A21   SLC25A21-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_36191711)_(37228500_?)dup
NC_000014.8:g.(?_36660917)_(37697705_?)dup
NC_000014.7:g.(?_35730668)_(36767456_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381436,191,711 - 37,228,500CLINVAR
GRCh371436,660,917 - 37,697,705CLINVAR
Build 361435,730,668 - 36,767,456CLINVAR
Cytogenetic Map1414q13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490022
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.