TTN c.19801C>T ;(p.P6601S)

Variant ID: 2-179592504-G-A

NM_001267550.1(TTN):c.19801C>T;(p.P6601S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomson, Kate L KL; Ormondroyd, Elizabeth E; Harper, Andrew R AR; Dent, Tim T; McGuire, Karen K; Baksi, John J; Blair, Edward E; Brennan, Paul P; Buchan, Rachel R; Bueser, Teofila T; Campbell, Carolyn C; Carr-White, Gerald G; Cook, Stuart S; Daniels, Matthew M; Deevi, Sri V V SVV; Goodship, Judith J; Hayesmoore, Jesse B G JBG; Henderson, Alex A; Lamb, Teresa T; Prasad, Sanjay S; Rayner-Matthews, Paula P; Robert, Leema L; Sneddon, Linda L; Stark, Hannah H; Walsh, Roddy R; Ware, James S JS; Farrall, Martin M; Watkins, Hugh C HC; ,
Publication Date: 2019-07

Variant appearance in text: TTN: 19801C>T; Pro6601Ser
PubMed Link: 30531895
Variant Present in the following documents:
  • 41436_2018_375_MOESM1_ESM.xlsx, sheet 15
View BVdb publication page