Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN1A c.3705+33T>G
Variant ID: 2-166870221-A-C
NM_001165963.1(
SCN1A
):c.3705+33T>G
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:
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Molecular Genetics & Genomic Medicine
Maksemous, Neven N; Roy, Bishakha B; Smith, Robert A RA; Griffiths, Lyn R LR
Publication Date: 2016-03
Variant appearance in text: rs76743139
PubMed Link:
27066515
Variant Present in the following documents:
Main text
MGG3-4-211.pdf
View BVdb publication page