SI c.1719dup ;(p.V574Cfs*7)

Variant ID: 3-164764796-C-CA

NM_001041.3(SI):c.1719dup;(p.V574Cfs*7)

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:

Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.

Frontiers In Neurology
Bascou, Nicholas A NA; Beltran-Quintero, Maria L ML; Escolar, Maria L ML
Publication Date: 2020

Variant appearance in text: SI: 1719dupT
PubMed Link: 33178108
Variant Present in the following documents:
  • fneur-11-563724.pdf
View BVdb publication page