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SCN1A c.659T>A ;(p.V220D)
Variant ID: 2-166909397-A-T
NM_001165963.1(
SCN1A
):c.659T>A;(p.V220D)
This variant was identified in 3 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: 659T>A
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: 659T>A; Val220Asp
PubMed Link:
28864458
Variant Present in the following documents:
supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
Plos One
Zhang, Yujia Y; Kong, Weijing W; Gao, Yang Y; Liu, Xiaoyan X; Gao, Kai K; Xie, Han H; Wu, Ye Y; Zhang, Yuehua Y; Wang, Jingmin J; Gao, Feng F; Wu, Xiru X; Jiang, Yuwu Y
Publication Date: 2015
Variant appearance in text: SCN1A: 659T>A; Val220Asp
PubMed Link:
26544041
Variant Present in the following documents:
Main text
pone.0141782.pdf
View BVdb publication page