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SCN1A c.2378C>T ;(p.T793M)
Variant ID: 2-166897778-G-A
NM_001165963.1(
SCN1A
):c.2378C>T;(p.T793M)
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:
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.
Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12
Variant appearance in text: SCN1A: 2378C>T; Thr793Met
PubMed Link:
34379890
Variant Present in the following documents:
Main text
EPI4-6-685.pdf
View BVdb publication page
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.
Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12
Variant appearance in text: SCN1A: 2378C>T; Thr793Met
PubMed Link:
34379890
Variant Present in the following documents:
Main text
EPI4-6-685.pdf
View BVdb publication page
A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
Molecular Genetics & Genomic Medicine
Zhao, Xuechao X; Wang, Yanhong Y; Mei, Shiyue S; Kong, Xiangdong X
Publication Date: 2020-06
Variant appearance in text: SCN1A: 2378C>T
PubMed Link:
32314541
Variant Present in the following documents:
Main text
MGG3-8-e1234.pdf
View BVdb publication page
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
Plos One
Kwong, Anna Ka-Yee AK; Fung, Cheuk-Wing CW; Chan, Siu-Yuen SY; Wong, Virginia Chun-Nei VC
Publication Date: 2012
Variant appearance in text: SCN1A: 2378C>T
PubMed Link:
22848613
Variant Present in the following documents:
Main text
pone.0041802.pdf
View BVdb publication page