chr21:35821641:G>A Detail (hg19) (KCNE1)

Information

Genome

Assembly Position
hg19 chr21:35,821,641-35,821,641
hg38 chr21:34,449,343-34,449,343 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127669.3:c.292C>T NP_001121141.1:p.Arg98Trp
NM_000219.5:c.292C>T NP_000210.2:p.Arg98Trp
NM_001127670.3:c.292C>T NP_001121142.1:p.Arg98Trp
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance other 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
Conflicting interpretations of pathogenicity 2023-11-23 criteria provided, conflicting interpretations long QT syndrome germline unknown Detail
Likely pathogenic 2023-11-18 criteria provided, single submitter germline Detail
Pathogenic 2017-07-05 criteria provided, single submitter long QT syndrome 5 germline Detail
Conflicting interpretations of pathogenicity 2021-06-23 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Congenital long QT syndrome NA CLINVAR Detail
0.280 long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) AND Congenital long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) AND Long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) AND Long QT syndrome 5 ClinVar Detail
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) AND not provided 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
rs199473362 dbSNP
Genome
hg19
Position
chr21:35,821,641-35,821,641
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1592858798979828E-4
Chromosome Counts in All Race (ExAC)
120972
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)
1.653275138048474E-5
Genome browser