SI c.1903T>C ;(p.C635R)

Variant ID: 3-164760948-A-G

NM_001041.3(SI):c.1903T>C;(p.C635R)

This variant was identified in 3 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: 1903T>C; Cys635Arg
PubMed Link: 34926337
Variant Present in the following documents:
  • Main text
  • fped-09-731716.pdf
View BVdb publication page



Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Molecular Genetics & Genomic Medicine
Slynko, Inna I; Nguyen, Stephanie S; Hamilton, Eline M C EMC; Wisse, Lisanne E LE; de Esch, Iwan J P IJP; de Graaf, Chris C; Bruning, John B JB; Proud, Christopher G CG; Abbink, Truus E M TEM; van der Knaap, Marjo S MS
Publication Date: 2021-03

Variant appearance in text: SI: 1903T>C
PubMed Link: 33432707
Variant Present in the following documents:
  • MGG3-9-e1593-s001.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: C635R
PubMed Link: 31557950
Variant Present in the following documents:
  • Main text
  • nutrients-11-02290.pdf
View BVdb publication page