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Details for OCA2:c.1456G>T, p.Asp486Tyr

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
28228538	27983392

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1456G>T

PROTEIN CHANGE

p.Asp486Tyr

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	0.0	0.0	0.0	0.0	0.0	0.0	0.000196

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.243084	Disease causing

DBSNP ID

3 combinations linked to OCA2:c.1456G>T, p.Asp486Tyr

OLI1095; OLI1096; OLI1097

1 disease linked to OCA2:c.1456G>T, p.Asp486Tyr

Oculocutaneous albinism

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