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MYH7 c.2801C>T ;(p.A934V)
Variant ID: 14-23893237-G-A
NM_000257.2(
MYH7
):c.2801C>T;(p.A934V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.
Molecular Medicine Reports
Wang, Bo B; Wang, Jing J; Wang, Li-Feng LF; Yang, Fan F; Xu, Lei L; Li, Wen-Xia WX; He, Yang Y; Zuo, Lei L; Yang, Qian-Li QL; Shao, Hong H; Hu, Dan D; Liu, Li-Wen LW
Publication Date: 2019-12
Variant appearance in text: MYH7: A934V
PubMed Link:
31638223
Variant Present in the following documents:
Main text
mmr-20-06-5229.pdf
View BVdb publication page
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Biomed Research International
Zhao, Yue Y; Feng, Yue Y; Zhang, Yun-Mei YM; Ding, Xiao-Xue XX; Song, Yu-Zhu YZ; Zhang, A-Mei AM; Liu, Li L; Zhang, Hong H; Ding, Jia-Huan JH; Xia, Xue-Shan XS
Publication Date: 2015
Variant appearance in text: MYH7: 2801C>T; Ala934Val
PubMed Link:
26199943
Variant Present in the following documents:
BMRI2015-561819.pdf
View BVdb publication page