chr11:2571333:G>A Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,592,563-2,592,563 View the variant detail on this assembly version.
hg38 chr11:2,571,333-2,571,333

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.613G>A NP_000209.2:p.Val205Met
NM_181798.1:c.232G>A NP_861463.1:p.Val78Met
Ensemble ENST00000155840.12:c.613G>A ENST00000155840.12:p.Val205Met
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 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 2023-09-04 criteria provided, multiple submitters, no conflicts long QT syndrome 1 germline Detail
Pathogenic 2023-08-10 criteria provided, single submitter not provided germline Detail
Pathogenic 2017-08-07 criteria provided, single submitter Congenital long QT syndrome germline Detail
Pathogenic 2023-08-16 criteria provided, multiple submitters, no conflicts long QT syndrome germline Detail
Pathogenic 2017-04-05 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.417 long QT syndrome NA CLINVAR Detail
0.417 long QT syndrome A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a Firs... BeFree 18580685 Detail
0.417 long QT syndrome Two First Nations communities in northern British Columbia are affected dispropo... BeFree 23844633 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.613G>A (p.Val205Met) AND Long QT syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) AND Long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community ... DisGeNET Detail
Two First Nations communities in northern British Columbia are affected disproportionately with LQTS... 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
rs151344631 dbSNP
Genome
hg38
Position
chr11:2,571,333-2,571,333
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8630
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)
120278
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.31407239894245E-6
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