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SCN1A c.5170G>A ;(p.A1724T)
Variant ID: 2-166848615-C-T
NM_001165963.1(
SCN1A
):c.5170G>A;(p.A1724T)
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:
Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy.
Frontiers In Neurology
Liu, Xianyu X; Shen, Qiyang Q; Zheng, Guo G; Guo, Hu H; Lu, Xiaopeng X; Wang, Xiaoyu X; Yang, Xiao X; Cao, Zixuan Z; Chen, Jing J
Publication Date: 2021
Variant appearance in text: SCN1A: 5170G>A
PubMed Link:
34163418
Variant Present in the following documents:
Main text
fneur-12-633637.pdf
View BVdb publication page
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.
Scientific Reports
Yang, Xiaoxu X; Liu, Aijie A; Xu, Xiaojing X; Yang, Xiaoling X; Zeng, Qi Q; Ye, Adam Yongxin AY; Yu, Zhe Z; Wang, Sheng S; Huang, August Yue AY; Wu, Xiru X; Wu, Qixi Q; Wei, Liping L; Zhang, Yuehua Y
Publication Date: 2017-11-15
Variant appearance in text: SCN1A: 5170G>A
PubMed Link:
29142202
Variant Present in the following documents:
41598_2017_15814_MOESM1_ESM.pdf
View BVdb publication page