TTN c.102561C>A ;(p.Y34187*)

Variant ID: 2-179398781-G-T

NM_001267550.1(TTN):c.102561C>A;(p.Y34187*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders
Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J
Publication Date: 2021-03-05

Variant appearance in text: TTN: 102561C>A; Tyr34187*
PubMed Link: 33673806
Variant Present in the following documents:
  • 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page