GAA c.1441_1499del ;(p.W481Gfs*5)

Variant ID: 17-78084527-TATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGG-T

NM_000152.3(GAA):c.1441_1499del;(p.W481Gfs*5)

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:

Molecular genetics of late onset glycogen storage disease II in Italy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Pittis, M G MG; Filocamo, M M
Publication Date: 2007-07

Variant appearance in text: GAA: V480_I517del
PubMed Link: 17915575
Variant Present in the following documents:
  • Main text
View BVdb publication page