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SCN1A c.2588T>C ;(p.L863S)
Variant ID: 2-166895934-A-G
NM_001165963.1(
SCN1A
):c.2588T>C;(p.L863S)
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:
Programmable RNA base editing with a single gRNA-free enzyme.
Nucleic Acids Research
Han, Wenjian W; Huang, Wendi W; Wei, Tong T; Ye, Yanwen Y; Mao, Miaowei M; Wang, Zefeng Z
Publication Date: 2022-09-09
Variant appearance in text: SCN1A: 2588T>C
PubMed Link:
36029126
Variant Present in the following documents:
gkac713_supplemental_file.pdf
View BVdb publication page
Precision Medicine: from Molecular Diagnoses to Treatment Opportunities in Medical Genetics.
Molecular Syndromology
Poot, Martin M
Publication Date: 2021-04
Variant appearance in text: SCN1A: 2588T>C; Leu863Ser
PubMed Link:
34012375
Variant Present in the following documents:
Main text
View BVdb publication page