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Variant : CV136575 (NM_001077653.2(TBX20):c.1189C>T (p.Leu397=)) Homo sapiens

Symbol: CV136575
Name: NM_001077653.2(TBX20):c.1189C>T (p.Leu397=)
Condition: Atrial septal defect 4 [RCV000119296]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: TBX20  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NG_015805.1:g.56515C>T
NC_000007.14:g.35202585G>A
NC_000007.13:g.35242197G>A
NP_001071121.1:p.Leu397=
LRG_755t1:c.1189C>T
LRG_755:g.56515C>T
LRG_755p1:p.Leu397=
Position
Human AssemblyChrPosition (strand)Source
GRCh38735,202,585 - 35,202,585CLINVAR
GRCh37735,242,197 - 35,242,197CLINVAR
Cytogenetic Map77p14.2CLINVAR
Age Of Onset: childhood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8688858
Created: 2014-07-08
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.