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Details for PITX2:c.562G>A, p.Ala188Thr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
111539694	110618538

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.562G>A

PROTEIN CHANGE

p.Ala188Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0029	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003003	0.0007999	0.0007538	0.004225	0.0	0.002595	0.005277	0.002785	0.0

ESP
AA	EA
0.0009079	0.003256

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.125383	Polymorphism

DBSNP ID

1 combination linked to PITX2:c.562G>A, p.Ala188Thr

1 disease linked to PITX2:c.562G>A, p.Ala188Thr

Congenital glaucoma

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