chr11:2527959:A>G Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,549,189-2,549,189 View the variant detail on this assembly version.
hg38 chr11:2,527,959-2,527,959

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.418A>G NP_000209.2:p.Ser140Gly
NM_181798.1:c.37A>G NP_861463.1:p.Ser13Gly
Ensemble ENST00000155840.12:c.418A>G ENST00000155840.12:p.Ser140Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607542 OMIM
HGNC 6294 HGNC
Ensembl ENSG00000053918 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-01-10 no assertion criteria provided Atrial fibrillation, familial, 3 germline Detail
not provided no assertion provided atrial fibrillation germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Atrial fibrillation, familial, 3 NA CLINVAR Detail
0.003 atrioventricular block Human KCNQ1 S140G mutation is associated with atrioventricular blocks. BeFree 17467630 Detail
0.005 Fibrillation Pro-arrhythmogenic effects of the S140G KCNQ1 mutation in human atrial fibrillat... BeFree 22508963 Detail
0.120 Atrial Fibrillation Adverse Event NA CLINVAR Detail
0.417 long QT syndrome Functional analysis of the S140G mutant revealed a gain-of-function effect on th... BeFree 12522251 Detail
0.280 long QT syndrome Functional analysis of the S140G mutant revealed a gain-of-function effect on th... BeFree 12522251 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.418A>G (p.Ser140Gly) AND Atrial fibrillation, familial, 3 ClinVar Detail
NM_000218.3(KCNQ1):c.418A>G (p.Ser140Gly) AND Atrial fibrillation ClinVar Detail
NA DisGeNET Detail
Human KCNQ1 S140G mutation is associated with atrioventricular blocks. DisGeNET Detail
Pro-arrhythmogenic effects of the S140G KCNQ1 mutation in human atrial fibrillation - insights from ... DisGeNET Detail
NA DisGeNET Detail
Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and th... DisGeNET Detail
Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and th... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs120074192 dbSNP
Genome
hg38
Position
chr11:2,527,959-2,527,959
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser