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SCN1A c.5929A>T ;(p.M1977L)
Variant ID: 2-166847856-T-A
NM_001165963.1(
SCN1A
):c.5929A>T;(p.M1977L)
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:
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Frontiers In Neurology
Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T
Publication Date: 2021
Variant appearance in text: SCN1A: M1977L
PubMed Link:
35002916
Variant Present in the following documents:
Main text
fneur-12-743726.pdf
View BVdb publication page
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: SCN1A: 5929A>T; Met1977Leu
PubMed Link:
28864458
Variant Present in the following documents:
supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page