SCN1A c.640G>A ;(p.A214T)

Variant ID: 2-166909416-C-T

NM_001165963.1(SCN1A):c.640G>A;(p.A214T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations.

Bmc Pediatrics
Liu, Qiao Q; Sundqvist, Martina M; Li, Wenyan W; Holdfeldt, André A; Zhang, Liang L; Björkman, Lena L; Bylund, Johan J; Dahlgren, Claes C; Wang, Cai C; Zhao, Xiaodong X; Forsman, Huamei H
Publication Date: 2019-06-08

Variant appearance in text: SCN1: 640G>A
PubMed Link: 31176364
Variant Present in the following documents:
  • Main text
  • 12887_2019_Article_1556.pdf
View BVdb publication page