chr21:35821770:C>T Detail (hg19) (KCNE1)

Information

Genome

Assembly Position
hg19 chr21:35,821,770-35,821,770
hg38 chr21:34,449,472-34,449,472 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127670.3:c.163G>A NP_001121142.1:p.Gly55Ser
NM_000219.5:c.163G>A NP_000210.2:p.Gly55Ser
NM_001270402.2:c.163G>A NP_001257331.1:p.Gly55Ser
Summary

MGeND

Clinical significance Pathogenic
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 tgv64916873 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 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
Uncertain significance 2014-02-10 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-11-27 criteria provided, single submitter long QT syndrome germline Detail
Uncertain significance 2020-12-01 criteria provided, single submitter not provided germline Detail
Likely benign 2022-09-14 criteria provided, single submitter germline Detail
Uncertain significance 2021-09-08 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 2,long QT syndrome 5 unknown Detail
Uncertain significance 2021-09-08 criteria provided, single submitter Jervell and Lange-Nielsen syndrome 2,long QT syndrome 5 unknown 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.163G>A (p.Gly55Ser) AND Congenital long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) AND not specified ClinVar Detail
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) AND Long QT syndrome ClinVar Detail
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) AND not provided ClinVar Detail
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) AND Cardiovascular phenotype ClinVar Detail
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) AND multiple conditions ClinVar Detail
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) AND multiple conditions 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
rs199473644 dbSNP
Genome
hg19
Position
chr21:35,821,770-35,821,770
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1566042100393245E-4
Chromosome Counts in All Race (ExAC)
121320
Allele Counts in All Race (ExAC)
16
Heterozygous Counts in All Race (ExAC)
16
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.3188262446422685E-4
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