ALK c.79del ;(p.Q27Sfs*54)

Variant ID: 2-30143446-TG-T

NM_004304.4(ALK):c.79del;(p.Q27Sfs*54)

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:

Liver transplantation in glycogen storage disease: a single-center experience.

Orphanet Journal Of Rare Diseases
Beyzaei, Zahra Z; Shamsaeefar, Alireza A; Kazemi, Kurosh K; Nikeghbalian, Saman S; Bahador, Ali A; Dehghani, Masoud M; Malekhosseini, Seyed-Ali SA; Geramizadeh, Bita B
Publication Date: 2022-03-21

Variant appearance in text: ALK: 79delC
PubMed Link: 35313948
Variant Present in the following documents:
  • 13023_2022_Article_2284.pdf
View BVdb publication page