MYBPC3 c.3227_3228insT ;(p.A1077Rfs*5)

Variant ID: 11-47354847-G-GA

NM_000256.3(MYBPC3):c.3227_3228insT;(p.A1077Rfs*5)

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:

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Journal Of Medical Genetics
Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM
Publication Date: 2013-04

Variant appearance in text: MYBPC3: 3227_3228insT
PubMed Link: 23396983
Variant Present in the following documents:
  • jmedgenet-2012-101270-s2.pdf
View BVdb publication page