chr21:34449576:G>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	chr21:35,821,874-35,821,874 View the variant detail on this assembly version.
hg38	chr21:34,449,576-34,449,576

HGVS

KCNE1

Type	Transcript	Protein
RefSeq	NM_001270402.2:c.59C>T	NP_001257331.1:p.Thr20Ile
	NM_001270403.2:c.59C>T	NP_001257332.1:p.Thr20Ile
	NM_000219.5:c.59C>T	NP_000210.2:p.Thr20Ile
	NM_001127669.3:c.59C>T	NP_001121141.1:p.Thr20Ile
	NM_001127670.3:c.59C>T	NP_001121142.1:p.Thr20Ile
	NM_001127668.3:c.59C>T	NP_001121140.1:p.Thr20Ile
	NM_001270404.2:c.59C>T	NP_001257333.1:p.Thr20Ile
	NM_001270405.2:c.59C>T	NP_001257334.1:p.Thr20Ile
Ensemble	ENST00000337385.7:c.59C>T	ENST00000337385.7:p.Thr20Ile
	ENST00000399284.1:c.59C>T	ENST00000399284.1:p.Thr20Ile
	ENST00000399286.3:c.59C>T	ENST00000399286.3:p.Thr20Ile
	ENST00000399289.7:c.59C>T	ENST00000399289.7:p.Thr20Ile
	ENST00000416357.6:c.59C>T	ENST00000416357.6:p.Thr20Ile
	ENST00000432085.5:c.59C>T	ENST00000432085.5:p.Thr20Ile
	ENST00000611936.1:c.59C>T	ENST00000611936.1:p.Thr20Ile
	ENST00000621601.4:c.59C>T	ENST00000621601.4:p.Thr20Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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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

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.59C>T (p.Thr20Ile) AND Congenital 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: rs199473349 dbSNP
Genome: hg38
Position: chr21:34,449,576-34,449,576
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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