SI c.4873T>G ;(p.F1625V)

Variant ID: 3-164710154-A-C

NM_001041.3(SI):c.4873T>G;(p.F1625V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

Nutrients
Husein, Diab M DM; Rizk, Sandra S; Naim, Hassan Y HY
Publication Date: 2020-12-22

Variant appearance in text: SI: 4873T>G; F1625V
PubMed Link: 33375084
Variant Present in the following documents:
  • Main text
  • nutrients-13-00009.pdf
View BVdb publication page



Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
Garcia-Etxebarria, Koldo K; Zheng, Tenghao T; Bonfiglio, Ferdinando F; Bujanda, Luis L; Dlugosz, Aldona A; Lindberg, Greger G; Schmidt, Peter T PT; Karling, Pontus P; Ohlsson, Bodil B; Simren, Magnus M; Walter, Susanna S; Nardone, Gerardo G; Cuomo, Rosario R; Usai-Satta, Paolo P; Galeazzi, Francesca F; Neri, Matteo M; Portincasa, Piero P; Bellini, Massimo M; Barbara, Giovanni G; Jonkers, Daisy D; Eswaran, Shanti S; Chey, William D WD; Kashyap, Purna P; Chang, Lin L; Mayer, Emeran A EA; Wouters, Mira M MM; Boeckxstaens, Guy G; Camilleri, Michael M; Franke, Andre A; D'Amato, Mauro M
Publication Date: 2018-10

Variant appearance in text: SI: Phe1625Val; rs149414344
PubMed Link: 29408290
Variant Present in the following documents:
  • Main text
View BVdb publication page