chr11:2610045:C>T Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,610,045-2,610,045
hg38 chr11:2,588,815-2,588,815 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.973C>T NP_861463.1:p.Arg325Trp
NM_000218.2:c.1354C>T NP_000209.2:p.Arg452Trp
Ensemble ENST00000713725.1:c.1213C>T ENST00000713725.1:p.Arg405Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
not provided no assertion provided Congenital long QT syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-01-11 criteria provided, conflicting interpretations long QT syndrome germline Detail
Uncertain significance 2022-12-21 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2023-05-22 criteria provided, single submitter germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 3,Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Beckwith-Wiedemann syndrome,Short QT syndrome type 2 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 3,Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Beckwith-Wiedemann syndrome,Short QT syndrome type 2 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 3,Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Beckwith-Wiedemann syndrome,Short QT syndrome type 2 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 3,Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Beckwith-Wiedemann syndrome,Short QT syndrome type 2 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 3,Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1,Beckwith-Wiedemann syndrome,Short QT syndrome type 2 unknown Detail
Uncertain significance 2020-02-18 criteria provided, single submitter long QT syndrome 1 unknown Detail
Uncertain significance 2023-05-01 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) AND Cardiac arrhythmia ClinVar Detail
NA 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
rs140452381 dbSNP
Genome
hg19
Position
chr11:2,610,045-2,610,045
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8520
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
117500
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.361702127659574E-5
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