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SCN1A c.4417_4419del ;(p.F1473del)
Variant ID: 2-166854604-TGAA-T
NM_001165963.1(
SCN1A
):c.4417_4419del;(p.F1473del)
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:
Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.
Frontiers In Molecular Neuroscience
Wang, Jing-Yang JY; Tang, Bin B; Sheng, Wen-Xiang WX; Hua, Li-Dong LD; Zeng, Yang Y; Fan, Cui-Xia CX; Deng, Wei-Yi WY; Gao, Mei-Mei MM; Zhu, Wei-Wen WW; He, Na N; Su, Tao T
Publication Date: 2022
Variant appearance in text: SCN1A: Phe1473del
PubMed Link:
35359575
Variant Present in the following documents:
Main text
fnmol-15-828846.pdf
View BVdb publication page