Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNQ1 c.1394-14C>T
Variant ID: 11-2683177-C-T
NM_000218.2(
KCNQ1
):c.1394-14C>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:
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: KCNQ1: 1394-14C>T; rs28730758
PubMed Link:
30319441
Variant Present in the following documents:
Table_7.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.
Endocrine Connections
Iivonen, Anna-Pauliina AP; Känsäkoski, Johanna J; Karppinen, Atte A; Kivipelto, Leena L; Schalin-Jäntti, Camilla C; Karhu, Auli A; Raivio, Taneli T
Publication Date: 2018-05
Variant appearance in text: KCNQ1: 1394-14C>T; rs28730758
PubMed Link:
29703730
Variant Present in the following documents:
ec-7-645-t002.pdf
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: rs28730758
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.
Heart Asia
Chen, Lin Y LY; Goh, June M JM; Wong, Raymond C RC; Hsu, Li-Fern LF; Foo, David D; Benditt, David G DG; Ling, Lieng H LH; Heng, Chew K CK
Publication Date: 2010
Variant appearance in text: rs28730758
PubMed Link:
27325960
Variant Present in the following documents:
Main text
View BVdb publication page