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SCN1A c.225G>T ;(p.E75D)
Variant ID: 2-166929907-C-A
NM_001165963.1(
SCN1A
):c.225G>T;(p.E75D)
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:
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: E75D
PubMed Link:
33013363
Variant Present in the following documents:
Main text
View BVdb publication page
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.
Scientific Reports
Arafat, Ahmed A; Jing, Peng P; Ma, Yuping Y; Pu, Miao M; Nan, Gai G; Fang, He H; Chen, Chen C; Fei, Yin Y
Publication Date: 2017-04-07
Variant appearance in text: SCN1A: 225G>T; E75D
PubMed Link:
28387369
Variant Present in the following documents:
Main text
View BVdb publication page