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Details for OPTN:c.1223A>C, p.Glu408Ala

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
13168020	13126020

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1223A>C

PROTEIN CHANGE

p.Glu408Ala

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.553264	Polymorphism

DBSNP ID

1 combination linked to OPTN:c.1223A>C, p.Glu408Ala

2 diseases linked to OPTN:c.1223A>C, p.Glu408Ala

Frontotemporal dementia; Amyotrophic lateral sclerosis

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