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Details for SLC45A2:c.1045G>A, p.Gly349Arg

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
33951770	33951665

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1045G>A

PROTEIN CHANGE

p.Gly349Arg

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
7.159e-05	0.0	2.893e-05	0.0	0.0	4.619e-05	0.0001407	0.0	0.0

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.859221	Disease causing

DBSNP ID

1 combination linked to SLC45A2:c.1045G>A, p.Gly349Arg

1 disease linked to SLC45A2:c.1045G>A, p.Gly349Arg

Oculocutaneous albinism

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