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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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