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Details for KCNE1:c.95G>A, p.Arg32His

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
35821838	34449540

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.95G>A

PROTEIN CHANGE

p.Arg32His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.173e-05	0.0	0.0	9.925e-05	0.0	0.0	7.039e-05	0.0	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.968699	Polymorphism

DBSNP ID

1 combination linked to KCNE1:c.95G>A, p.Arg32His

1 disease linked to KCNE1:c.95G>A, p.Arg32His

Familial long QT syndrome

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