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Details for APEX1:c.662G>A, p.Arg221His

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
20925372	20457213

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.662G>A

PROTEIN CHANGE

p.Arg221His

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
2.386e-05	0.0	2.891e-05	0.0	0.0	0.0	8.79e-06	0.0	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.223359	Polymorphism

DBSNP ID

1 combination linked to APEX1:c.662G>A, p.Arg221His

1 disease linked to APEX1:c.662G>A, p.Arg221His

Non-Syndromic genetic keratoconus

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