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CLCN6 c.*545G>T
Variant ID: 1-11900825-G-T
NM_001286.3(
CLCN6
):c.*545G>T
This variant was identified in 4 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: rs198414
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.
Scientific Reports
Song, Fan F; Tao, Yu Y; Sun, Yue Y; Saffen, David D
Publication Date: 2019-12-27
Variant appearance in text: rs198414
PubMed Link:
31882953
Variant Present in the following documents:
41598_2019_56494_MOESM1_ESM.pdf
View BVdb publication page
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
Circulation. Cardiovascular Genetics
Paré, Guillaume G; Chasman, Daniel I DI; Parker, Alexander N AN; Zee, Robert R Y RR; Mälarstig, Anders A; Seedorf, Udo U; Collins, Rory R; Watkins, Hugh H; Hamsten, Anders A; Miletich, Joseph P JP; Ridker, Paul M PM
Publication Date: 2009-04
Variant appearance in text: rs198414
PubMed Link:
20031578
Variant Present in the following documents:
Main text
View BVdb publication page
Adaptations to climate in candidate genes for common metabolic disorders.
Plos Genetics
Hancock, Angela M AM; Witonsky, David B DB; Gordon, Adam S AS; Eshel, Gidon G; Pritchard, Jonathan K JK; Coop, Graham G; Di Rienzo, Anna A
Publication Date: 2008-02
Variant appearance in text: rs198414
PubMed Link:
18282109
Variant Present in the following documents:
pgen.0040032.pdf
View BVdb publication page