chr11:2591912:G>A Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,591,912-2,591,912
hg38 chr11:2,570,682-2,570,682 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.151G>A NP_861463.1:p.Ala51Thr
NM_000218.2:c.532G>A NP_000209.2:p.Ala178Thr
Ensemble ENST00000335475.6:c.151G>A ENST00000335475.6:p.Ala51Thr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 tgv41368556 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
not provided no assertion provided Congenital long QT syndrome germline Detail
Pathogenic 2023-12-27 criteria provided, single submitter long QT syndrome germline Detail
Pathogenic Likely pathogenic 2023-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2022-05-06 criteria provided, single submitter germline Detail
Pathogenic Likely pathogenic 2020-06-11 criteria provided, multiple submitters, no conflicts long QT syndrome 1 germline unknown Detail
Likely pathogenic 2019-08-19 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1 germline Detail
Likely pathogenic 2019-08-19 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 1,long QT syndrome 1 germline Detail
Likely pathogenic 2022-11-07 criteria provided, single submitter Cardiac arrhythmia germline Detail
Pathogenic 2024-03-29 criteria provided, single submitter long QT syndrome 1 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
0.573 Romano-Ward Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND multiple conditions ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND Cardiac arrhythmia ClinVar Detail
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) AND Long QT syndrome 1 ClinVar Detail
NA DisGeNET 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
rs120074177 dbSNP
Genome
hg19
Position
chr11:2,591,912-2,591,912
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs120074177
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8590
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)
119248
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6771769757144774E-5
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