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Details for TEK:c.2228G>C, p.Gly743Ala

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
27204927	27204929

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2228G>C

PROTEIN CHANGE

p.Gly743Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0008	0.0	0.001	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002747	0.0003076	2.891e-05	0.0	0.001305	4.619e-05	7.049e-05	0.0001631	0.0009472

ESP
AA	EA
0.000227	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.582875	Disease causing

DBSNP ID

1 combination linked to TEK:c.2228G>C, p.Gly743Ala

1 disease linked to TEK:c.2228G>C, p.Gly743Ala

Congenital glaucoma

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