TTN c.57121A>G ;(p.K19041E)

Variant ID: 2-179462776-T-C

NM_001267550.1(TTN):c.57121A>G;(p.K19041E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07

Variant appearance in text: TTN: 57121A>G
PubMed Link: 34137518
Variant Present in the following documents:
  • MGG3-9-e1709-s001.xlsx, sheet 1
View BVdb publication page



Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07

Variant appearance in text: TTN: 57121A>G
PubMed Link: 34137518
Variant Present in the following documents:
  • MGG3-9-e1709-s001.xlsx, sheet 1
View BVdb publication page