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CLCN6 c.214-255C>T
Variant ID: 1-11876417-C-T
NM_001286.3(
CLCN6
):c.214-255C>T
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: rs198391
PubMed Link:
31882953
Variant Present in the following documents:
41598_2019_56494_MOESM1_ESM.pdf
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: CLCN6: 214-255C>T; rs198391
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
Table_5.xlsx, sheet 1
Table_7.xlsx, sheet 1
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs198391
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page