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Variant : CV509891 (NM_001077653.2(TBX20):c.501C>T (p.Ser167=)) Homo sapiens

Symbol: CV509891
Name: NM_001077653.2(TBX20):c.501C>T (p.Ser167=)
Condition: Cardiovascular phenotype [RCV000621384]
Clinical Significance: benign
Last Evaluated: 11/01/2016
Review Status: criteria provided, single submitter
Related Genes: TBX20  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_755:g.10379C>T
NP_001071121.1:p.Ser167=
LRG_755t1:c.501C>T
NM_001077653.2:c.501C>T
LRG_755p1:p.Ser167=
NC_000007.13:g.35288333G>A
NG_015805.1:g.10379C>T
NC_000007.14:g.35248721G>A
NM_001077653.2:c.501C>T
NM_001166220.1:c.501C>T
NP_001159692.1:p.Ser167=
Position
Human AssemblyChrPosition (strand)Source
GRCh38735,248,721 - 35,248,721CLINVAR
GRCh37735,288,333 - 35,288,333CLINVAR
Cytogenetic Map77p14.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13529328
Created: 2018-05-08
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.