GAA c.1325T>A ;(p.V442E)

Variant ID: 17-78082626-T-A

NM_000152.3(GAA):c.1325T>A;(p.V442E)

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:

Translating Molecular Technologies into Routine Newborn Screening Practice.

International Journal Of Neonatal Screening
Furnier, Sarah M SM; Durkin, Maureen S MS; Baker, Mei W MW
Publication Date: 2020-10-15

Variant appearance in text: GAA: 1325T>A
PubMed Link: 33124618
Variant Present in the following documents:
  • Main text
View BVdb publication page