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Details for OPTN:c.491A>Y, p.Gln314Leu

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
13166053	13124053

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.491A>Y

PROTEIN CHANGE

p.Gln314Leu

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
0.0001513	0.0	8.687e-05	9.93e-05	0.0	0.0	0.0002992	0.0	0.0

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.258167	Disease causing

DBSNP ID

1 combination linked to OPTN:c.491A>Y, p.Gln314Leu

1 disease linked to OPTN:c.491A>Y, p.Gln314Leu

Amyotrophic lateral sclerosis

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