chr21:34449426:T>A Detail (hg38) (KCNE1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr21:35,821,724-35,821,724 View the variant detail on this assembly version.
hg38	chr21:34,449,426-34,449,426

HGVS

KCNE1

Type	Transcript	Protein
RefSeq	NM_001270402.2:c.209A>T	NP_001257331.1:p.Lys70Met
	NM_001270403.2:c.209A>T	NP_001257332.1:p.Lys70Met
	NM_000219.5:c.209A>T	NP_000210.2:p.Lys70Met
	NM_001127669.3:c.209A>T	NP_001121141.1:p.Lys70Met
	NM_001127670.3:c.209A>T	NP_001121142.1:p.Lys70Met
	NM_001127668.3:c.209A>T	NP_001121140.1:p.Lys70Met
	NM_001270404.2:c.209A>T	NP_001257333.1:p.Lys70Met
	NM_001270405.2:c.209A>T	NP_001257334.1:p.Lys70Met
Ensemble	ENST00000337385.7:c.209A>T	ENST00000337385.7:p.Lys70Met
	ENST00000399284.1:c.209A>T	ENST00000399284.1:p.Lys70Met
	ENST00000399286.3:c.209A>T	ENST00000399286.3:p.Lys70Met
	ENST00000399289.7:c.209A>T	ENST00000399289.7:p.Lys70Met
	ENST00000416357.6:c.209A>T	ENST00000416357.6:p.Lys70Met
	ENST00000432085.5:c.209A>T	ENST00000432085.5:p.Lys70Met
	ENST00000611936.1:c.209A>T	ENST00000611936.1:p.Lys70Met
	ENST00000621601.4:c.209A>T	ENST00000621601.4:p.Lys70Met

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	Uncertain significance
Review star
Show details

Links

KCNE1

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

[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	2022-11-12	criteria provided, single submitter	long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Congenital long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met) AND Congenital long QT syndrome	ClinVar	Detail
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met) AND Long QT syndrome	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: rs199473646 dbSNP
Genome: hg38
Position: chr21:34,449,426-34,449,426
Variant Type: snv
Reference Allele: T
Alternative Allele: A
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): 121276
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.24565454005739E-6

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