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SCN1A c.1150T>C ;(p.W384R)
Variant ID: 2-166904157-A-G
NM_001165963.1(
SCN1A
):c.1150T>C;(p.W384R)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Frontiers In Pharmacology
Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF
Publication Date: 2020
Variant appearance in text: SCN1A: W384R
PubMed Link:
33013363
Variant Present in the following documents:
Main text
View BVdb publication page
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Journal Of Medical Genetics
Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y
Publication Date: 2020-08
Variant appearance in text: SCN1A: 1150T>C; W384R
PubMed Link:
32005694
Variant Present in the following documents:
jmedgenet-2019-106377supp005.pdf
View BVdb publication page
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Nature Communications
Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N
Publication Date: 2019-06-07
Variant appearance in text: SCN1A: 1150T>C; Trp384Arg
PubMed Link:
31175295
Variant Present in the following documents:
41467_2019_10482_MOESM7_ESM.xlsx, sheet 1
41467_2019_10482_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Data In Brief
Kong, Yanting Y; Yan, Kai K; Hu, Liyuan L; Wang, Mingbang M; Dong, Xinran X; Lu, Yulan Y; Wu, Bingbing B; Wang, Huijun H; Yang, Lin L; Zhou, Wenhao W
Publication Date: 2019-02
Variant appearance in text: SCN1A: W384R
PubMed Link:
30619928
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: Nav1.1: W384R
PubMed Link:
28150151
Variant Present in the following documents:
Main text
13238_2017_Article_372.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: SCN1A: W384R
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
View BVdb publication page
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01
Variant appearance in text: SCN1A: W384R
PubMed Link:
24136861
Variant Present in the following documents:
Main text
View BVdb publication page
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
Plos One
Verbeek, Nienke E NE; van der Maas, Nicoline A T NA; Jansen, Floor E FE; van Kempen, Marjan J A MJ; Lindhout, Dick D; Brilstra, Eva H EH
Publication Date: 2013
Variant appearance in text: SCN1A: Trp384Arg
PubMed Link:
23762420
Variant Present in the following documents:
Main text
pone.0065758.pdf
View BVdb publication page