MYBPC3 c.3636T>G ;(p.I1212M)

Variant ID: 11-47353801-A-C

NM_000256.3(MYBPC3):c.3636T>G;(p.I1212M)

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:

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

International Journal Of Molecular Sciences
Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L
Publication Date: 2016-07-30

Variant appearance in text: MYBPC3: 3636T>G; Ile1212Met
PubMed Link: 27483260
Variant Present in the following documents:
  • Main text
  • ijms-17-01239.pdf
View BVdb publication page