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Details for ATP2B3:c.1445G>A, p.Arg482His

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
152815061	153549603

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1445G>A

PROTEIN CHANGE

p.Arg482His

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
5.452e-06	0.0	0.0	0.0	0.0	6.246e-05	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.04955	Disease causing

DBSNP ID

1 combination linked to ATP2B3:c.1445G>A, p.Arg482His

1 disease linked to ATP2B3:c.1445G>A, p.Arg482His

X-linked cerebellar ataxia

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