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Details for OPTN:p.Arg271His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
13164417	13122417

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg271His

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
2.784e-05	0.0	0.0	0.0	0.0	0.0	6.155e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.000478	Polymorphism

DBSNP ID

1 combination linked to OPTN:p.Arg271His

1 disease linked to OPTN:p.Arg271His

Amyotrophic lateral sclerosis

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