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SCN5A c.2291T>A ;(p.M764K)
Variant ID: 3-38629036-A-T
NM_000335.4(
SCN5A
):c.2291T>A;(p.M764K)
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:
Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome.
Journal Of The American Heart Association
Aizawa, Yoshiyasu Y; Fujisawa, Taishi T; Katsumata, Yoshinori Y; Kohsaka, Shun S; Kunitomi, Akira A; Ohno, Seiko S; Sonoda, Keiko K; Hayashi, Hidemori H; Hojo, Rintaro R; Fukamizu, Seiji S; Nagase, Satoshi S; Ito, Shogo S; Nakajima, Kazuaki K; Nishiyama, Takahiko T; Kimura, Takehiro T; Kurita, Yasuo Y; Furukawa, Yoshiko Y; Takatsuki, Seiji S; Ogawa, Satoshi S; Nakazato, Yuji Y; Sumiyoshi, Masataka M; Kosaki, Kenjiro K; Horie, Minoru M; Fukuda, Keiichi K
Publication Date: 2018-09-18
Variant appearance in text: SCN5A: 2291T>A; Met764Lys
PubMed Link:
30371189
Variant Present in the following documents:
Main text
JAH3-7-e009387.pdf
View BVdb publication page