GBA c.331G>A ;(p.E111K)

Variant ID: 1-155209530-C-T

NM_000157.3(GBA):c.331G>A;(p.E111K)

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:

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

Movement Disorders : Official Journal Of The Movement Disorder Society
Blauwendraat, Cornelis C; Bras, Jose M JM; Nalls, Mike A MA; Lewis, Patrick A PA; Hernandez, Dena G DG; Singleton, Andrew B AB; ,
Publication Date: 2018-11

Variant appearance in text: GBA: E111K
PubMed Link: 30302829
Variant Present in the following documents:
  • Main text
View BVdb publication page