chr21:34449481:C>T 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	chr21:35,821,779-35,821,779 View the variant detail on this assembly version.
hg38	chr21:34,449,481-34,449,481

HGVS

KCNE1

Type	Transcript	Protein
RefSeq	NM_001270402.2:c.154G>A	NP_001257331.1:p.Gly52Arg
	NM_001270403.2:c.154G>A	NP_001257332.1:p.Gly52Arg
	NM_000219.5:c.154G>A	NP_000210.2:p.Gly52Arg
	NM_001127669.3:c.154G>A	NP_001121141.1:p.Gly52Arg
	NM_001127670.3:c.154G>A	NP_001121142.1:p.Gly52Arg
	NM_001127668.3:c.154G>A	NP_001121140.1:p.Gly52Arg
	NM_001270404.2:c.154G>A	NP_001257333.1:p.Gly52Arg
	NM_001270405.2:c.154G>A	NP_001257334.1:p.Gly52Arg
Ensemble	ENST00000337385.7:c.154G>A	ENST00000337385.7:p.Gly52Arg
	ENST00000399284.1:c.154G>A	ENST00000399284.1:p.Gly52Arg
	ENST00000399286.3:c.154G>A	ENST00000399286.3:p.Gly52Arg
	ENST00000399289.7:c.154G>A	ENST00000399289.7:p.Gly52Arg
	ENST00000416357.6:c.154G>A	ENST00000416357.6:p.Gly52Arg
	ENST00000432085.5:c.154G>A	ENST00000432085.5:p.Gly52Arg
	ENST00000611936.1:c.154G>A	ENST00000611936.1:p.Gly52Arg
	ENST00000621601.4:c.154G>A	ENST00000621601.4:p.Gly52Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2020-01-16	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
0.280	long QT syndrome	A novel missense mutation, G to A at position 154 in the KCNE1 gene was identifi...	BeFree	14499862	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) AND Congenital long QT syndrome	ClinVar	Detail
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) AND Long QT syndrome	ClinVar	Detail
NA	DisGeNET	Detail
A novel missense mutation, G to A at position 154 in the KCNE1 gene was identified in a Chinese Long...	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: rs199473354 dbSNP
Genome: hg38
Position: chr21:34,449,481-34,449,481
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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