SCN1A c.1209dup ;(p.V404Cfs*46)

Variant ID: 2-166903447-C-CA

NM_001165963.1(SCN1A):c.1209dup;(p.V404Cfs*46)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

Bmc Medical Genomics
Rim, John Hoon JH; Kim, Se Hee SH; Hwang, In Sik IS; Kwon, Soon Sung SS; Kim, Jieun J; Kim, Hyun Woo HW; Cho, Min Jung MJ; Ko, Ara A; Youn, Song Ee SE; Kim, Jihun J; Lee, Young Mock YM; Chung, Hee Jung HJ; Lee, Joon Soo JS; Kim, Heung Dong HD; Choi, Jong Rak JR; Lee, Seung-Tae ST; Kang, Hoon-Chul HC
Publication Date: 2018-02-01

Variant appearance in text: SCN1A: 1209dupT
PubMed Link: 29390993
Variant Present in the following documents:
  • Main text
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