chr11:2588816:G>A Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,610,046-2,610,046 View the variant detail on this assembly version.
hg38 chr11:2,588,816-2,588,816

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1355G>A NP_000209.2:p.Arg452Gln
NM_181798.1:c.974G>A NP_861463.1:p.Arg325Gln
Ensemble ENST00000155840.12:c.1355G>A ENST00000155840.12:p.Arg452Gln
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 tgv273508211 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-08-17 criteria provided, single submitter not provided germline Detail
Likely benign 2023-03-13 criteria provided, single submitter germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter Congenital long QT syndrome germline Detail
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter familial atrial fibrillation germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter Jervell and Lange-Nielsen syndrome germline Detail
Uncertain significance 2016-06-14 criteria provided, single submitter short QT syndrome germline Detail
Uncertain significance 2022-02-03 criteria provided, single submitter Atrial fibrillation, familial, 3,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Short QT syndrome type 2,Beckwith-Wiedemann syndrome unknown Detail
Uncertain significance 2022-02-03 criteria provided, single submitter Atrial fibrillation, familial, 3,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Short QT syndrome type 2,Beckwith-Wiedemann syndrome unknown Detail
Uncertain significance 2022-02-03 criteria provided, single submitter Atrial fibrillation, familial, 3,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Short QT syndrome type 2,Beckwith-Wiedemann syndrome unknown Detail
Uncertain significance 2022-02-03 criteria provided, single submitter Atrial fibrillation, familial, 3,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Short QT syndrome type 2,Beckwith-Wiedemann syndrome unknown Detail
Uncertain significance 2022-02-03 criteria provided, single submitter Atrial fibrillation, familial, 3,long QT syndrome 1,Jervell and Lange-Nielsen syndrome 1,Short QT syndrome type 2,Beckwith-Wiedemann syndrome unknown Detail
Uncertain significance 2020-08-17 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-01-27 criteria provided, single submitter Cardiac arrhythmia germline Detail
Uncertain significance 2023-05-15 criteria provided, single submitter Short QT syndrome type 2,Atrial fibrillation, familial, 3,long QT syndrome 1 germline Detail
Uncertain significance 2023-05-15 criteria provided, single submitter Short QT syndrome type 2,Atrial fibrillation, familial, 3,long QT syndrome 1 germline Detail
Uncertain significance 2023-05-15 criteria provided, single submitter Short QT syndrome type 2,Atrial fibrillation, familial, 3,long QT syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND Familial atrial fibrillation ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND Jervell and Lange-Nielsen syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND Short QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND not specified ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND Cardiac arrhythmia ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) AND multiple conditions ClinVar 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
rs145229963 dbSNP
Genome
hg38
Position
chr11:2,588,816-2,588,816
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8516
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)
117510
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.658922644881286E-5
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