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Details for KCNE1:c.379C>A, p.Pro127Thr

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
35821554	34449256

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.379C>A

PROTEIN CHANGE

p.Pro127Thr

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.995655	Disease causing

DBSNP ID

1 combination linked to KCNE1:c.379C>A, p.Pro127Thr

1 disease linked to KCNE1:c.379C>A, p.Pro127Thr

Familial long QT syndrome

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