Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN1A c.3867_3869del ;(p.F1289del)
Variant ID: 2-166868628-TAAG-T
NM_001165963.1(
SCN1A
):c.3867_3869del;(p.F1289del)
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:
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.
Frontiers In Molecular Neuroscience
Chen, Chunhong C; Fang, Fang F; Wang, Xu X; Lv, Junlan J; Wang, Xiaohui X; Jin, Hong H
Publication Date: 2022
Variant appearance in text: SMEI: 3867_3869delCTT
PubMed Link:
35571373
Variant Present in the following documents:
Main text
fnmol-15-821012.pdf
View BVdb publication page
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: F1289del
PubMed Link:
35359575
Variant Present in the following documents:
Main text
fnmol-15-828846.pdf
View BVdb publication page