SCN1A c.292G>C ;(p.A98P)

Variant ID: 2-166915171-C-G

NM_001165963.1(SCN1A):c.292G>C;(p.A98P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive Analysis to Identify the Encoded Gens of Sodium Channels as a Prognostic Biomarker in Hepatocellular Carcinoma.

Frontiers In Genetics
Yan, Yan Y; He, Wen W; Chen, Yonghua Y; Li, Qiang Q; Pan, Jiahao J; Yuan, Yunfei Y; Zeng, Weian W; Chen, Dongtai D; Xing, Wei W
Publication Date: 2021

Variant appearance in text: SCN1A: A98P
PubMed Link: 35126466
Variant Present in the following documents:
  • fgene-12-802067.pdf
View BVdb publication page



Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 292G>C; A98P
PubMed Link: 31001185
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: A98P
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: A98P
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page