Bibliome.ai browser hg19
Search
About
Stats
FAQ
SI c.3871A>C ;(p.R1291=)
Variant ID: 3-164733757-T-G
NM_001041.3(
SI
):c.3871A>C;(p.R1291=)
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: R1291=
PubMed Link:
34926337
Variant Present in the following documents:
Table_1.xls, sheet 1
View BVdb publication page