MYBPC3 c.1424G>C ;(p.C475S)

Variant ID: 11-47364414-C-G

NM_000256.3(MYBPC3):c.1424G>C;(p.C475S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

Plos One
Suktitipat, Bhoom B; Sathirareuangchai, Sakda S; Roothumnong, Ekkapong E; Thongnoppakhun, Wanna W; Wangkiratikant, Purin P; Vorasan, Nutchavadee N; Krittayaphong, Rungroj R; Pithukpakorn, Manop M; Boonyapisit, Warangkna W
Publication Date: 2017

Variant appearance in text: MYBPC3: Cys475Ser
PubMed Link: 28704380
Variant Present in the following documents:
  • Main text
  • pone.0180056.pdf
View BVdb publication page