GAA c.1847_1848insT ;(p.V617Rfs*19)

Variant ID: 17-78086469-A-AT

NM_000152.3(GAA):c.1847_1848insT;(p.V617Rfs*19)

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:

Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine
Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2019-07

Variant appearance in text: GAA: 1847_1848insT
PubMed Link: 31392197
Variant Present in the following documents:
  • Main text
View BVdb publication page