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Variant : CV508824 (NM_001077653.2(TBX20):c.931C>T (p.Arg311Cys)) Homo sapiens

Symbol: CV508824
Name: NM_001077653.2(TBX20):c.931C>T (p.Arg311Cys)
Condition: Atrial septal defect 4 [RCV000614445]|Inborn genetic diseases [RCV000622766]
Clinical Significance: uncertain significance
Last Evaluated: 05/31/2017
Review Status: criteria provided, single submitter
Related Genes: TBX20  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001077653.2:c.931C>T
LRG_755:g.54558C>T
NG_015805.1:g.54558C>T
NC_000007.14:g.35204542G>A
NC_000007.13:g.35244154G>A
LRG_755p1:p.Arg311Cys
NP_001071121.1:p.Arg311Cys
LRG_755t1:c.931C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38735,204,542 - 35,204,542CLINVAR
GRCh37735,244,154 - 35,244,154CLINVAR
Cytogenetic Map77p14.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13533521
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.