TTN c.81391A>T ;(p.K27131*)

Variant ID: 2-179429468-T-A

NM_001267550.1(TTN):c.81391A>T;(p.K27131*)

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:

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

Plos One
Franaszczyk, Maria M; Chmielewski, Przemyslaw P; Truszkowska, Grazyna G; Stawinski, Piotr P; Michalak, Ewa E; Rydzanicz, Malgorzata M; Sobieszczanska-Malek, Malgorzata M; Pollak, Agnieszka A; Szczygieł, Justyna J; Kosinska, Joanna J; Parulski, Adam A; Stoklosa, Tomasz T; Tarnowska, Agnieszka A; Machnicki, Marcin M MM; Foss-Nieradko, Bogna B; Szperl, Malgorzata M; Sioma, Agnieszka A; Kusmierczyk, Mariusz M; Grzybowski, Jacek J; Zielinski, Tomasz T; Ploski, Rafal R; Bilinska, Zofia T ZT
Publication Date: 2017

Variant appearance in text: TTN: 81391A>T; Lys27131*
PubMed Link: 28045975
Variant Present in the following documents:
  • Main text
  • pone.0169007.pdf
View BVdb publication page