chr21:34449435:C>T Detail (hg38) (KCNE1)

Information

Genome

Assembly Position
hg19 chr21:35,821,733-35,821,733 View the variant detail on this assembly version.
hg38 chr21:34,449,435-34,449,435

HGVS

Type Transcript Protein
RefSeq NM_001270402.2:c.200G>A NP_001257331.1:p.Arg67His
NM_001270403.2:c.200G>A NP_001257332.1:p.Arg67His
NM_000219.5:c.200G>A NP_000210.2:p.Arg67His
Summary

MGeND

Clinical significance
Variant entry
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 Uncertain significance
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 tgv64916858 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Congenital long QT syndrome germline Detail
Uncertain significance 2023-10-28 criteria provided, single submitter long QT syndrome germline Detail
Uncertain significance 2014-11-06 no assertion criteria provided not specified germline Detail
Uncertain significance 2023-04-02 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2022-02-18 criteria provided, single submitter germline Detail
Uncertain significance 2018-02-13 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 2 maternal Detail
Uncertain significance 2022-05-12 criteria provided, single submitter long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2 unknown Detail
Uncertain significance 2022-05-12 criteria provided, single submitter long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2 unknown 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.200G>A (p.Arg67His) AND Congenital long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) AND Long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) AND not specified ClinVar Detail
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) AND not provided ClinVar Detail
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) AND Cardiovascular phenotype ClinVar Detail
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) AND Jervell and Lange-Nielsen syndrome 2 ClinVar Detail
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) AND multiple conditions ClinVar Detail
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) AND multiple conditions 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
rs79654911 dbSNP
Genome
hg38
Position
chr21:34,449,435-34,449,435
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs79654911
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))
16760
East Asian Chromosome Counts (ExAC)
8642
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)
121288
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.122419365477211E-5
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