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Details for KCNE2:c.170T>C, p.Ile57Thr

CHROMOSOME

21

GENOMIC COORDINATES

hg19	hg38
35742947	34370648

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.170T>C

PROTEIN CHANGE

p.Ile57Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0014	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001054	0.0003076	0.001879	0.00119	0.0	0.0	0.001169	0.00342	0.0009472

ESP
AA	EA
0.0006809	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.695312	Polymorphism

DBSNP ID

1 combination linked to KCNE2:c.170T>C, p.Ile57Thr

1 disease linked to KCNE2:c.170T>C, p.Ile57Thr

Familial long QT syndrome

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