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.




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