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SCN1A c.4562_4563del ;(p.K1521Tfs*15)
Variant ID: 2-166852541-GCT-G
NM_001165963.1(
SCN1A
):c.4562_4563del;(p.K1521Tfs*15)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 4562_4563del
PubMed Link:
29142202
Variant Present in the following documents:
Main text
41598_2017_Article_15814.pdf
View BVdb publication page