chr11:2594125:C>T Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,594,125-2,594,125
hg38 chr11:2,572,895-2,572,895 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.830C>T NP_000209.2:p.Ser277Leu
NM_181798.1:c.449C>T NP_861463.1:p.Ser150Leu
Ensemble ENST00000496887.7:c.569C>T ENST00000496887.7:p.Ser190Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic long qt syndrome germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic long qt syndrome germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-11 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Pathogenic 2018-07-16 criteria provided, single submitter Congenital long QT syndrome germline Detail
Pathogenic 2018-09-17 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-04-14 criteria provided, single submitter germline Detail
Pathogenic 2023-08-01 criteria provided, single submitter long QT syndrome 1 germline Detail
Pathogenic 2022-09-27 criteria provided, single submitter Cardiac arrhythmia germline Detail
Pathogenic 2023-08-23 criteria provided, single submitter KCNQ1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.006 cardiac event Excitement, exercises, and stress appear to be the triggers for developing cardi... BeFree 12442276 Detail
0.007 cardiac event Excitement, exercises, and stress appear to be the triggers for developing cardi... BeFree 12442276 Detail
0.417 long QT syndrome Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long ... BeFree 21241800 Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) AND Cardiac arrhythmia ClinVar Detail
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) AND KCNQ1-related disorder ClinVar Detail
NA DisGeNET Detail
Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, ... DisGeNET Detail
Excitement, exercises, and stress appear to be the triggers for developing cardiac events (syncope, ... DisGeNET Detail
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phe... DisGeNET Detail
NA 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
rs199472730 dbSNP
Genome
hg19
Position
chr11:2,594,125-2,594,125
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser