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Details for KCNE2:c.178C>T, p.Phe60Leu

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
35742955	34370656

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.178C>T

PROTEIN CHANGE

p.Phe60Leu

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	Damaging	4.040477	Disease causing

DBSNP ID

1 combination linked to KCNE2:c.178C>T, p.Phe60Leu

1 disease linked to KCNE2:c.178C>T, p.Phe60Leu

Familial long QT syndrome

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