SI c.4693A>C ;(p.R1565=)

Variant ID: 3-164712193-T-G

NM_001041.3(SI):c.4693A>C;(p.R1565=)

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:

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: R1565=
PubMed Link: 34926337
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page