Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNQ1 c.478-3852A>G
Variant ID: 11-2588006-A-G
NM_000218.2(
KCNQ1
):c.478-3852A>G
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs6578273
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population.
Genetic Testing And Molecular Biomarkers
Ma, Qi Q; Wang, Li L; Yao, Hua H; Wang, Ting-ting TT; Ma, Yan Y; Su, Yin-xia YX; Wang, Zhi-qiang ZQ; Zhu, Jun J; Wang, Shu-xia SX; Zhang, Zhao-Xia ZX; Hou, Qin-qin QQ; Cai, Ren R; Gong, Xue-li XL; Jiang, Xiao-yan XY
Publication Date: 2015-12
Variant appearance in text: rs6578273
PubMed Link:
26540651
Variant Present in the following documents:
Main text
View BVdb publication page