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SCN5A c.2244G>A ;(p.M748I)
Variant ID: 3-38639238-C-T
NM_000335.4(
SCN5A
):c.2244G>A;(p.M748I)
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:
Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy.
Open Heart
Graziosi, Maddalena M; Ditaranto, Raffaello R; Rapezzi, Claudio C; Pasquale, Ferdinando F; Lovato, Luigi L; Leone, Ornella O; Parisi, Vanda V; Potena, Luciano L; Ferrara, Valentina V; Minnucci, Matteo M; Caponetti, Angelo Giuseppe AG; Chiti, Chiara C; Ferlini, Alessandra A; Gualandi, Francesca F; Rossi, Cesare C; Berardini, Alessandra A; Tini, Giacomo G; Bertini, Matteo M; Ziacchi, Matteo M; Biffi, Mauro M; Galie, Nazzareno N; Olivotto, Iacopo I; Biagini, Elena E
Publication Date: 2022-04
Variant appearance in text: SCN5A: 2244G>A; Met748Ile
PubMed Link:
35444050
Variant Present in the following documents:
Main text
openhrt-2021-001914supp001.pdf
openhrt-2021-001914.pdf
View BVdb publication page
Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.
Nature Communications
Wu, Kui K; Zhang, Xin X; Li, Fuqiang F; Xiao, Dakai D; Hou, Yong Y; Zhu, Shida S; Liu, Dongbing D; Ye, Xiaofei X; Ye, Mingzhi M; Yang, Jie J; Shao, Libin L; Pan, Hui H; Lu, Na N; Yu, Yuan Y; Liu, Liping L; Li, Jin J; Huang, Liyan L; Tang, Hailing H; Deng, Qiuhua Q; Zheng, Yue Y; Peng, Lihua L; Liu, Geng G; Gu, Xia X; He, Ping P; Gu, Yingying Y; Lin, Weixuan W; He, Huiming H; Xie, Guoyun G; Liang, Han H; An, Na N; Wang, Hui H; Teixeira, Manuel M; Vieira, Joana J; Liang, Wenhua W; Zhao, Xin X; Peng, Zhiyu Z; Mu, Feng F; Zhang, Xiuqing X; Xu, Xun X; Yang, Huanming H; Kristiansen, Karsten K; Wang, Jian J; Zhong, Nanshan N; Wang, Jun J; Pan-Hammarström, Qiang Q; He, Jianxing J
Publication Date: 2015-12-09
Variant appearance in text: SCN5A: M748I
PubMed Link:
26647728
Variant Present in the following documents:
ncomms10131-s8.xlsx, sheet 1
View BVdb publication page