Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN1A c.1264G>A ;(p.V422M)
Variant ID: 2-166903393-C-T
NM_001165963.1(
SCN1A
):c.1264G>A;(p.V422M)
This variant was identified in 4 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: 1264G>A; Val422Met
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: 1264G>A; Val422Met
PubMed Link:
34379890
Variant Present in the following documents:
Main text
EPI4-6-685.pdf
View BVdb publication page
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
Jama Network Open
SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY
Publication Date: 2020-04-01
Variant appearance in text: SCN1A: 1264G>A; Val422Met
PubMed Link:
32347949
Variant Present in the following documents:
Main text
jamanetwopen-3-e203812-s001.pdf
View BVdb publication page
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Pediatric Neurology
Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A
Publication Date: 2017-12
Variant appearance in text: SCN1A: 1264G>A; Val422Met
PubMed Link:
29056246
Variant Present in the following documents:
Main text
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: 1264G>A
PubMed Link:
22848613
Variant Present in the following documents:
Main text
pone.0041802.pdf
View BVdb publication page