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MYL2 c.433G>A ;(p.D145N)
Variant ID: 12-111348949-C-T
NM_000432.3(
MYL2
):c.433G>A;(p.D145N)
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 Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.
Journal Of The American Heart Association
Wang, Ce C; Hata, Yukiko Y; Hirono, Keiichi K; Takasaki, Asami A; Ozawa, Sayaka Watanabe SW; Nakaoka, Hideyuki H; Saito, Kazuyoshi K; Miyao, Nariaki N; Okabe, Mako M; Ibuki, Keijiro K; Nishida, Naoki N; Origasa, Hideki H; Yu, Xianyi X; Bowles, Neil E NE; Ichida, Fukiko F; ,
Publication Date: 2017-08-30
Variant appearance in text: rs199567559
PubMed Link:
28855170
Variant Present in the following documents:
Main text
JAH3-6-e006210.pdf
View BVdb publication page