chr21:35821734:G>A Detail (hg19) (KCNE1)

Information

Genome

Assembly Position
hg19 chr21:35,821,734-35,821,734
hg38 chr21:34,449,436-34,449,436 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001270402.2:c.199C>T NP_001257331.1:p.Arg67Cys
NM_001270403.2:c.199C>T NP_001257332.1:p.Arg67Cys
NM_000219.5:c.199C>T NP_000210.2:p.Arg67Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
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 tgv64916859 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 2021-11-09 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely pathogenic 2021-12-14 criteria provided, single submitter germline Detail
Conflicting interpretations of pathogenicity 2024-01-01 criteria provided, conflicting interpretations not provided germline Detail
Pathogenic 2024-01-13 criteria provided, single submitter long QT syndrome germline Detail
Uncertain significance 2022-06-02 criteria provided, single submitter long QT syndrome 5 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Congenital long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) AND Congenital long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) AND not specified ClinVar Detail
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) AND Cardiovascular phenotype ClinVar Detail
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) AND not provided ClinVar Detail
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) AND Long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) AND Long QT syndrome 5 ClinVar 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
rs199473645 dbSNP
Genome
hg19
Position
chr21:35,821,734-35,821,734
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
105.01
Standard deviation of sample read depth (HGVD)
51.74
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
KCNE1
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))
rs199473645
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))
2
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)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.473451619286327E-5
Genome browser