SCN1A c.4676T>C ;(p.M1559T)

Variant ID: 2-166850832-A-G

NM_001165963.1(SCN1A):c.4676T>C;(p.M1559T)

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:

Genomic Analysis of Korean Patient With Microcephaly.

Frontiers In Genetics
Lee, Jiwon J; Park, Jong Eun JE; Lee, Chung C; Kim, Ah Reum AR; Kim, Byung Joon BJ; Park, Woong-Yang WY; Ki, Chang-Seok CS; Lee, Jeehun J
Publication Date: 2020

Variant appearance in text: SCN1A: 4676T>C; Met1559Thr
PubMed Link: 33584783
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page