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Details for FUS:c.1550G>A, p.Arg517His

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
31202740	31191419

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1550G>A

PROTEIN CHANGE

p.Arg517His

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
3.979e-06	0.0	0.0	0.0	0.0	0.0	8.799e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.817357	Disease causing

DBSNP ID

1 combination linked to FUS:c.1550G>A, p.Arg517His

1 disease linked to FUS:c.1550G>A, p.Arg517His

Amyotrophic lateral sclerosis

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