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SCN1A c.2198A>G ;(p.K733R)
Variant ID: 2-166897958-T-C
NM_001165963.1(
SCN1A
):c.2198A>G;(p.K733R)
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:
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
Hgg Advances
French, Courtney E CE; Dolling, Helen H; Mégy, Karyn K; Sanchis-Juan, Alba A; Kumar, Ajay A; Delon, Isabelle I; Wakeling, Matthew M; Mallin, Lucy L; Agrawal, Shruti S; Austin, Topun T; Walston, Florence F; Park, Soo-Mi SM; Parker, Alasdair A; Piyasena, Chinthika C; Bradbury, Kimberley K; , ; Ellard, Sian S; Rowitch, David H DH; Raymond, F Lucy FL
Publication Date: 2022-07-14
Variant appearance in text: SCN1A: 2198A>G; Lys733Arg
PubMed Link:
35586607
Variant Present in the following documents:
mmc2.xlsx, sheet 1
View BVdb publication page