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Details for SLC45A2:c.563G>A, p.Gly188Asp

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
33964121	33964016

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.563G>A

PROTEIN CHANGE

p.Gly188Asp

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
3.997e-06	0.0	0.0	0.0	0.0	0.0	8.87e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.7119	Disease causing

DBSNP ID

1 combination linked to SLC45A2:c.563G>A, p.Gly188Asp

1 disease linked to SLC45A2:c.563G>A, p.Gly188Asp

Oculocutaneous albinism

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