TTN c.72728G>A ;(p.W24243*)

Variant ID: 2-179438131-C-T

NM_001267550.1(TTN):c.72728G>A;(p.W24243*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study.

Metabolites
Ravi, Rowmika R; Fernandes Silva, Lilian L; Vangipurapu, Jagadish J; Maria, Maleeha M; Raivo, Joose J; Helisalmi, Seppo S; Laakso, Markku M
Publication Date: 2022-05-13

Variant appearance in text: TTN: Trp24243Ter
PubMed Link: 35629941
Variant Present in the following documents:
  • metabolites-12-00437.pdf
View BVdb publication page