TTN c.37943C>T ;(p.P12648L)

Variant ID: 2-179522425-G-A

NM_001267550.1(TTN):c.37943C>T;(p.P12648L)

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:

Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance.

Journal Of Clinical Medicine
Iglesias, Mercedes M; Ripoll-Vera, Tomas T; Perez-Luengo, Consuelo C; García, Ana Belen AB; Moyano, Susana S; Canos, Juan Carlos JC; Borondo, Juan Carlos JC; Alvarez, Jorge J; Heine-Suñer, Damian D; Barcelo, Bernardino B
Publication Date: 2021-04-21

Variant appearance in text: TTN: Pro12648Leu
PubMed Link: 33919104
Variant Present in the following documents:
  • Main text
View BVdb publication page