SCN1A c.5516T>G ;(p.L1839R)

Variant ID: 2-166848269-A-C

NM_001165963.1(SCN1A):c.5516T>G;(p.L1839R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic Variants Associated with Episodic Ataxia in Korea.

Scientific Reports
Choi, Kwang-Dong KD; Kim, Ji-Soo JS; Kim, Hyo-Jung HJ; Jung, Ileok I; Jeong, Seong-Hae SH; Lee, Seung-Han SH; Kim, Dong Uk DU; Kim, Sang-Ho SH; Choi, Seo Young SY; Shin, Jin-Hong JH; Kim, Dae-Seong DS; Park, Kyung-Pil KP; Kim, Hyang-Sook HS; Choi, Jae-Hwan JH
Publication Date: 2017-10-23

Variant appearance in text: SCN1A: 5516T>G
PubMed Link: 29062094
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_14254.pdf
View BVdb publication page