Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN1A c.986G>T ;(p.G329V)
Variant ID: 2-166905438-C-A
NM_001165963.1(
SCN1A
):c.986G>T;(p.G329V)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 986G>T; Gly329Val
PubMed Link:
32347949
Variant Present in the following documents:
Main text
jamanetwopen-3-e203812-s001.pdf
View BVdb publication page