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SCN1A c.5504_5512del ;(p.L1835_P1837del)
Variant ID: 2-166848272-GGCGGTTCAA-G
NM_001165963.1(
SCN1A
):c.5504_5512del;(p.L1835_P1837del)
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:
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.
Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28
Variant appearance in text: SCN1A: 5503_5511del
PubMed Link:
36855133
Variant Present in the following documents:
12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
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: Leu1835_Pro1837del
PubMed Link:
35359575
Variant Present in the following documents:
Main text
fnmol-15-828846.pdf
View BVdb publication page