SI c.4592G>A ;(p.C1531Y)

Variant ID: 3-164714423-C-T

NM_001041.3(SI):c.4592G>A;(p.C1531Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.

Frontiers In Pediatrics
Zhou, Jianli J; Zhao, Yuzhen Y; Qian, Xia X; Cheng, Yongwei Y; Cai, Huabo H; Chen, Moxian M; Zhou, Shaoming S
Publication Date: 2021

Variant appearance in text: SI: 4592G>A; Cys1531Tyr
PubMed Link: 34926337
Variant Present in the following documents:
  • Main text
  • fped-09-731716.pdf
View BVdb publication page



Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.

Nutrients
Husein, Diab M DM; Wanes, Dalanda D; Marten, Lara M LM; Zimmer, Klaus-Peter KP; Naim, Hassan Y HY
Publication Date: 2019-09-25

Variant appearance in text: SI: C1531Y
PubMed Link: 31557950
Variant Present in the following documents:
  • Main text
  • nutrients-11-02290.pdf
View BVdb publication page