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Details for OPTN:c.1634G>A, p.Arg545Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
13178766	13136766

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1634G>A

PROTEIN CHANGE

p.Arg545Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0076	0.0	0.0	0.0347	0.0	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003103	0.0	0.0003469	0.004366	0.03453	0.0	0.0002551	0.002444	0.00147

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.906458	Polymorphism

DBSNP ID

5 combinations linked to OPTN:c.1634G>A, p.Arg545Gln

OLI435; OLI436; OLI437; OLI439; OLI442

1 disease linked to OPTN:c.1634G>A, p.Arg545Gln

Amyotrophic lateral sclerosis

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