Bibliome.ai browser hg19
Search
About
Stats
FAQ
SI c.3186_3187del ;(p.Y1063*)
Variant ID: 3-164739083-TAA-T
NM_001041.3(
SI
):c.3186_3187del;(p.Y1063*)
This variant was identified in 2 publications
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: 3186_3187delTT; Tyr1063fs
PubMed Link:
34926337
Variant Present in the following documents:
Main text
fped-09-731716.pdf
View BVdb publication page
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: SI: 3186_3187delTT; Tyr1063fs
PubMed Link:
31589614
Variant Present in the following documents:
pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page