chr21:34449458:CAGGGT>AGGGGG 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	chr21:35,821,756-35,821,761 View the variant detail on this assembly version.
hg38	chr21:34,449,458-34,449,463

HGVS

KCNE1

Type	Transcript	Protein
RefSeq	NM_001270402.2:c.172_177delinsCCCCCT	NP_001257331.1:p.Thr58_Leu59delinsProPro
	NM_001270403.2:c.172_177delinsCCCCCT	NP_001257332.1:p.Thr58_Leu59delinsProPro
	NM_000219.5:c.172_177delinsCCCCCT	NP_000210.2:p.Thr58_Leu59delinsProPro
	NM_001127669.3:c.172_177delinsCCCCCT	NP_001121141.1:p.Thr58_Leu59delinsProPro
	NM_001127670.3:c.172_177delinsCCCCCT	NP_001121142.1:p.Thr58_Leu59delinsProPro
	NM_001127668.3:c.172_177delinsCCCCCT	NP_001121140.1:p.Thr58_Leu59delinsProPro
	NM_001270404.2:c.172_177delinsCCCCCT	NP_001257333.1:p.Thr58_Leu59delinsProPro
	NM_001270405.2:c.172_177delinsCCCCCT	NP_001257334.1:p.Thr58_Leu59delinsProPro
Ensemble	ENST00000337385.7:c.172_177delinsCCCCCT	ENST00000337385.7:p.Thr58_Leu59delinsProPro
	ENST00000399284.1:c.172_177delinsCCCCCT	ENST00000399284.1:p.Thr58_Leu59delinsProPro
	ENST00000399286.3:c.172_177delinsCCCCCT	ENST00000399286.3:p.Thr58_Leu59delinsProPro
	ENST00000399289.7:c.172_177delinsCCCCCT	ENST00000399289.7:p.Thr58_Leu59delinsProPro
	ENST00000416357.6:c.172_177delinsCCCCCT	ENST00000416357.6:p.Thr58_Leu59delinsProPro
	ENST00000432085.5:c.172_177delinsCCCCCT	ENST00000432085.5:p.Thr58_Leu59delinsProPro
	ENST00000611936.1:c.172_177delinsCCCCCT	ENST00000611936.1:p.Thr58_Leu59delinsProPro
	ENST00000621601.4:c.172_177delinsCCCCCT	ENST00000621601.4:p.Thr58_Leu59delinsProPro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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
Pathogenic	1997-11-01	no assertion criteria provided	Jervell and Lange-Nielsen syndrome 2	germline	Detail
Likely pathogenic	2024-01-05	criteria provided, single submitter	long QT syndrome	germline	Detail
Likely pathogenic	2022-02-23	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2021-10-21	criteria provided, single submitter	Jervell and Lange-Nielsen syndrome 2,long QT syndrome 5	unknown	Detail
Likely pathogenic	2021-10-21	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
0.360	JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] AND Jervell and Lange-Nielsen syndrome 2	ClinVar	Detail
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] AND Long QT syndrome	ClinVar	Detail
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] AND not provided	ClinVar	Detail
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] AND multiple conditions	ClinVar	Detail
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] 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: rs281865421 dbSNP
Genome: hg38
Position: chr21:34,449,458-34,449,463
Variant Type: snv
Reference Allele: CAGGGT
Alternative Allele: AGGGGG

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