chr21:35821712:G>A Detail (hg19) (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	chr21:35,821,712-35,821,712
hg38	chr21:34,449,414-34,449,414 View the variant detail on this assembly version.

HGVS

KCNE1

Type	Transcript	Protein
RefSeq	NM_001270402.2:c.221C>T	NP_001257331.1:p.Ser74Leu
	NM_001270403.2:c.221C>T	NP_001257332.1:p.Ser74Leu
	NM_000219.5:c.221C>T	NP_000210.2:p.Ser74Leu
	NM_001127669.3:c.221C>T	NP_001121141.1:p.Ser74Leu
	NM_001127670.3:c.221C>T	NP_001121142.1:p.Ser74Leu
	NM_001127668.3:c.221C>T	NP_001121140.1:p.Ser74Leu
	NM_001270404.2:c.221C>T	NP_001257333.1:p.Ser74Leu
	NM_001270405.2:c.221C>T	NP_001257334.1:p.Ser74Leu
Ensemble	ENST00000337385.7:c.221C>T	ENST00000337385.7:p.Ser74Leu
	ENST00000399284.1:c.221C>T	ENST00000399284.1:p.Ser74Leu
	ENST00000399286.3:c.221C>T	ENST00000399286.3:p.Ser74Leu
	ENST00000399289.7:c.221C>T	ENST00000399289.7:p.Ser74Leu
	ENST00000416357.6:c.221C>T	ENST00000416357.6:p.Ser74Leu
	ENST00000432085.5:c.221C>T	ENST00000432085.5:p.Ser74Leu
	ENST00000611936.1:c.221C>T	ENST00000611936.1:p.Ser74Leu
	ENST00000621601.4:c.221C>T	ENST00000621601.4:p.Ser74Leu

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	Conflicting classifications of pathogenicity
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
Pathogenic	1997-11-01	no assertion criteria provided	long QT syndrome 5	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2023-10-28	criteria provided, single submitter	long QT syndrome	germline	Detail
Uncertain significance	2016-04-29	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2021-11-01	criteria provided, single submitter	long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2	unknown	Detail
Uncertain significance	2021-11-01	criteria provided, single submitter	long QT syndrome 5,Jervell and Lange-Nielsen syndrome 2	unknown	Detail
Uncertain significance	2023-07-25	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2018-08-15	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Congenital long QT syndrome	NA	CLINVAR		Detail
0.369	Jervell-Lange Nielsen syndrome	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE...	BeFree	16914890	Detail
0.360	long QT syndrome 5	NA	CLINVAR		Detail
<0.001	Romano-Ward Syndrome	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE...	BeFree	16914890	Detail
<0.001	Jervell-Lange Nielsen syndrome	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE...	BeFree	16914890	Detail
0.122	Romano-Ward Syndrome	The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE...	BeFree	16914890	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND Long QT syndrome 5	ClinVar	Detail
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND Congenital long QT syndrome	ClinVar	Detail
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND Long QT syndrome	ClinVar	Detail
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND not specified	ClinVar	Detail
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND multiple conditions	ClinVar	Detail
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND multiple conditions	ClinVar	Detail
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND not provided	ClinVar	Detail
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ...	DisGeNET	Detail
NA	DisGeNET	Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ...	DisGeNET	Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ...	DisGeNET	Detail
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ...	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: rs74315446 dbSNP
Genome: hg19
Position: chr21:35,821,712-35,821,712
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8638
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): 121258
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6493757112932755E-5

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