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Details for TYR:c.1255G>A, p.Gly419Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
89018011	89284843

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1255G>A

PROTEIN CHANGE

p.Gly419Arg

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
6.389e-05	0.0	0.0	0.0	0.0	0.0	3.537e-05	0.0	0.0003921

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.196354	Disease causing

DBSNP ID

1 combination linked to TYR:c.1255G>A, p.Gly419Arg

1 disease linked to TYR:c.1255G>A, p.Gly419Arg

Oculocutaneous albinism

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