chr21:34449436:G>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	chr21:35,821,734-35,821,734 View the variant detail on this assembly version.
hg38	chr21:34,449,436-34,449,436

HGVS

KCNE1

Type	Transcript	Protein
RefSeq	NM_001270402.2:c.199C>A	NP_001257331.1:p.Arg67Ser
	NM_001270403.2:c.199C>A	NP_001257332.1:p.Arg67Ser
	NM_000219.5:c.199C>A	NP_000210.2:p.Arg67Ser
	NM_001127669.3:c.199C>A	NP_001121141.1:p.Arg67Ser
	NM_001127670.3:c.199C>A	NP_001121142.1:p.Arg67Ser
	NM_001127668.3:c.199C>A	NP_001121140.1:p.Arg67Ser
	NM_001270404.2:c.199C>A	NP_001257333.1:p.Arg67Ser
	NM_001270405.2:c.199C>A	NP_001257334.1:p.Arg67Ser
Ensemble	ENST00000337385.7:c.199C>A	ENST00000337385.7:p.Arg67Ser
	ENST00000399284.1:c.199C>A	ENST00000399284.1:p.Arg67Ser
	ENST00000399286.3:c.199C>A	ENST00000399286.3:p.Arg67Ser
	ENST00000399289.7:c.199C>A	ENST00000399289.7:p.Arg67Ser
	ENST00000416357.6:c.199C>A	ENST00000416357.6:p.Arg67Ser
	ENST00000432085.5:c.199C>A	ENST00000432085.5:p.Arg67Ser
	ENST00000611936.1:c.199C>A	ENST00000611936.1:p.Arg67Ser
	ENST00000621601.4:c.199C>A	ENST00000621601.4:p.Arg67Ser

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	tgv292848591	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2019-11-21	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-03-29	criteria provided, single submitter	long QT syndrome	germline	Detail
Uncertain significance	2021-09-02	criteria provided, single submitter	Jervell and Lange-Nielsen syndrome 2,long QT syndrome 5	unknown	Detail
Uncertain significance	2021-09-02	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

Descrption	Source	Links
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) AND not provided	ClinVar	Detail
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) AND Long QT syndrome	ClinVar	Detail
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) AND multiple conditions	ClinVar	Detail
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) 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: rs199473645 dbSNP
Genome: hg38
Position: chr21:34,449,436-34,449,436
Variant Type: snv
Reference Allele: G
Alternative Allele: T
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): 121288
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): 8.244838730954422E-6

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