GC c.1128_1129delinsC ;(p.D377Mfs*16)

Variant ID: 4-72620730-CA-G

NM_000583.3(GC):c.1128_1129delinsC;(p.D377Mfs*16)

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:

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.

Scientific Reports
Aung-Htut, May Thandar MT; Ham, Kristin A KA; Tchan, Michel M; Johnsen, Russell R; Schnell, Frederick J FJ; Fletcher, Sue S; Wilton, Steve D SD
Publication Date: 2020-04-21

Variant appearance in text: GC: 1128_1129delinsC
PubMed Link: 32317649
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_63461.pdf
View BVdb publication page