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Details for OPTN:c.1403T>G, p.Met468Arg

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
13174068	13132068

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1403T>G

PROTEIN CHANGE

p.Met468Arg

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
7.954e-06	0.0	0.0	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	4.692988	Disease causing

DBSNP ID

2 combinations linked to OPTN:c.1403T>G, p.Met468Arg

2 diseases linked to OPTN:c.1403T>G, p.Met468Arg

Frontotemporal dementia; Amyotrophic lateral sclerosis

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