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Details for ATP13A2:c.2219G>A, p.Arg740His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
17318246	16991751

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2219G>A

PROTEIN CHANGE

p.Arg740His

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
1.194e-05	0.0	2.891e-05	0.0	0.0	0.0	1.759e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.087846	Polymorphism

DBSNP ID

1 combination linked to ATP13A2:c.2219G>A, p.Arg740His

1 disease linked to ATP13A2:c.2219G>A, p.Arg740His

Amyotrophic lateral sclerosis

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