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GRIN2A c.594G>A ;(p.W198*)
Variant ID: 16-10032229-C-T
NM_001134407.1(
GRIN2A
):c.594G>A;(p.W198*)
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:
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
Frontiers In Pediatrics
Li, Xiao X; Xie, Ling-Ling LL; Han, Wei W; Hong, Si-Qi SQ; Ma, Jian-Nan JN; Wang, Juan J; Jiang, Li L
Publication Date: 2020
Variant appearance in text: GluN2A: 594G>A
PubMed Link:
33240831
Variant Present in the following documents:
Main text
fped-08-574803.pdf
View BVdb publication page
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Neuroscience Bulletin
Xu, Xing-Xing XX; Luo, Jian-Hong JH
Publication Date: 2018-06
Variant appearance in text: GRIN2A: 594G>A
PubMed Link:
29124671
Variant Present in the following documents:
Main text
View BVdb publication page