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Details for KCNE1:c.221C>T, p.Ser74Leu

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
35821712	34449414

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.221C>T

PROTEIN CHANGE

p.Ser74Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.591e-05	0.0	0.0	0.0	5.437e-05	0.0	1.759e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.516609	Disease causing

DBSNP ID

1 combination linked to KCNE1:c.221C>T, p.Ser74Leu

1 disease linked to KCNE1:c.221C>T, p.Ser74Leu

Familial long QT syndrome

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