chr21:34449409:C>T Detail (hg38) (KCNE1)

Information

Genome

Assembly Position
hg19 chr21:35,821,707-35,821,707 View the variant detail on this assembly version.
hg38 chr21:34,449,409-34,449,409

HGVS

Type Transcript Protein
RefSeq NM_001270402.2:c.226G>A NP_001257331.1:p.Asp76Asn
NM_001270403.2:c.226G>A NP_001257332.1:p.Asp76Asn
NM_000219.5:c.226G>A NP_000210.2:p.Asp76Asn
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 176261 OMIM
HGNC 6240 HGNC
Ensembl ENSG00000180509 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv292848588 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-01-20 no assertion criteria provided Jervell and Lange-Nielsen syndrome 2 germline Detail
Likely pathogenic 2021-07-05 criteria provided, multiple submitters, no conflicts long QT syndrome 5 germline paternal unknown Detail
Likely pathogenic 2018-07-13 criteria provided, single submitter Congenital long QT syndrome germline Detail
Likely pathogenic 2014-06-01 no assertion criteria provided Jervell and Lange-Nielsen syndrome 1 germline Detail
Pathogenic Likely pathogenic 2022-07-05 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-12-03 criteria provided, single submitter germline Detail
Pathogenic Likely pathogenic 2024-01-09 criteria provided, multiple submitters, no conflicts long QT syndrome germline paternal unknown Detail
Uncertain significance 2017-03-14 criteria provided, single submitter Brugada syndrome,arrhythmogenic right ventricular cardiomyopathy,Sudden unexplained death germline Detail
Uncertain significance 2017-03-14 criteria provided, single submitter Brugada syndrome,arrhythmogenic right ventricular cardiomyopathy,Sudden unexplained death germline Detail
Uncertain significance 2017-03-14 criteria provided, single submitter Brugada syndrome,arrhythmogenic right ventricular cardiomyopathy,Sudden unexplained death germline Detail
Likely pathogenic 2018-07-13 criteria provided, single submitter Jervell and Lange-Nielsen syndrome germline Detail
Likely pathogenic 2017-08-01 no assertion criteria provided not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Congenital long QT syndrome NA CLINVAR Detail
0.360 JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) NA CLINVAR Detail
0.369 Jervell-Lange Nielsen syndrome The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE... BeFree 16914890 Detail
0.360 long QT syndrome 5 NA CLINVAR Detail
0.369 Jervell-Lange Nielsen syndrome NA CLINVAR Detail
<0.001 Romano-Ward Syndrome The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE... BeFree 16914890 Detail
<0.001 Jervell-Lange Nielsen syndrome The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE... BeFree 16914890 Detail
0.122 Romano-Ward Syndrome The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE... BeFree 16914890 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND Jervell and Lange-Nielsen syndrome 2 ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND Long QT syndrome 5 ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND Congenital long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND Jervell and Lange-Nielsen syndrome 1 ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND not provided ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND Cardiovascular phenotype ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND Long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND multiple conditions ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND multiple conditions ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND multiple conditions ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND Jervell and Lange-Nielsen syndrome ClinVar Detail
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) AND not specified ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ... DisGeNET Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ... DisGeNET Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ... 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
rs74315445 dbSNP
Genome
hg38
Position
chr21:34,449,409-34,449,409
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
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)
121246
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.299077907724791E-5
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