chr11:2594209:G>C Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,594,209-2,594,209
hg38 chr11:2,572,979-2,572,979 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.914G>C NP_000209.2:p.Trp305Ser
NM_181798.1:c.533G>C NP_861463.1:p.Trp178Ser
Ensemble ENST00000496887.7:c.653G>C ENST00000496887.7:p.Trp218Ser
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 1998-03-01 no assertion criteria provided Jervell and Lange-Nielsen syndrome 1 germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Pathogenic 2018-12-20 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-03-31 criteria provided, single submitter germline Detail
Pathogenic 2022-04-30 criteria provided, single submitter long QT syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.585 Jervell-Lange Nielsen syndrome NA CLINVAR Detail
0.133 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) AND Jervell and Lange-Nielsen syndrome 1 ClinVar Detail
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) AND Congenital long QT syndrome ClinVar Detail
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) AND not provided ClinVar Detail
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) AND Cardiovascular phenotype ClinVar Detail
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) AND Long QT syndrome 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
rs120074186 dbSNP
Genome
hg19
Position
chr11:2,594,209-2,594,209
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8578
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)
117512
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)
8.509769215058888E-6
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