SI c.4626T>G ;(p.C1542W)

Variant ID: 3-164714389-A-C

NM_001041.3(SI):c.4626T>G;(p.C1542W)

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:

Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

Journal Of Pediatric Gastroenterology And Nutrition
Haberman, Yael Y; Di Segni, Ayelet A; Loberman-Nachum, Nurit N; Barel, Ortal O; Kunik, Vered V; Eyal, Eran E; Kol, Nitzan N; Hout-Siloni, Goni G; Kochavi, Brigitte B; Avivi, Camila C; Schvimer, Michael M; Rechavi, Gideon G; Anikster, Yair Y; Barshack, Iris I; Weiss, Batia B
Publication Date: 2017-05

Variant appearance in text: SI: C1542W
PubMed Link: 27749612
Variant Present in the following documents:
  • Main text
View BVdb publication page