MYBPC3 c.1852C>T ;(p.P618S)

Variant ID: 11-47362734-G-A

NM_000256.3(MYBPC3):c.1852C>T;(p.P618S)

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:

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.

Molecular Genetics & Genomic Medicine
Modena, Martina M; Castiglione, Vincenzo V; Aretini, Paolo P; Mazzanti, Chiara M CM; Chiti, Enrica E; Giannoni, Alberto A; Emdin, Michele M; Di Paolo, Marco M
Publication Date: 2020-04

Variant appearance in text: MYBPC3: 1852C>T
PubMed Link: 32101375
Variant Present in the following documents:
  • Main text
View BVdb publication page