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Details for TEK:p.Ile148Thr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
27168571	27168573

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ile148Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0351	0.0303	0.036	0.0933	0.002	0.0153

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01871	0.02357	0.04888	0.004172	0.1061	0.007033	0.0006613	0.009647	0.01151

ESP
AA	EA
0.01793	0.0005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.686723	Polymorphism

DBSNP ID

1 combination linked to TEK:p.Ile148Thr

1 disease linked to TEK:p.Ile148Thr

Congenital glaucoma

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