SCN1A c.1150T>A ;(p.W384R)

Variant ID: 2-166904157-A-T

NM_001165963.1(SCN1A):c.1150T>A;(p.W384R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SCN1A: 1150T>A; Trp384Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: SCN1A: W384R; rs1057523858
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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



Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open
SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY
Publication Date: 2020-04-01

Variant appearance in text: SCN1A: 1150T>A; Trp384Arg
PubMed Link: 32347949
Variant Present in the following documents:
  • jamanetwopen-3-e203812-s001.pdf
View BVdb publication page



Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: SCN1A: 1150T>A; Trp384Arg
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.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