GAA c.2071_2072insAA ;(p.A691Efs*6)

Variant ID: 17-78087047-G-GAA

NM_000152.3(GAA):c.2071_2072insAA;(p.A691Efs*6)

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:

Autophagy in Natural History and After ERT in Glycogenosis Type II.

Jimd Reports
Angelini, Corrado C; Nascimbeni, Anna C AC; Fanin, Marina M
Publication Date: 2015

Variant appearance in text: GAA: A691fsX6
PubMed Link: 25712382
Variant Present in the following documents:
  • Main text
View BVdb publication page