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Details for FUS:c.1453C>T, p.Arg485Trp

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
31202343	31191022

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1453C>T

PROTEIN CHANGE

p.Arg485Trp

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
0.0001962	0.0	0.0	0.0	0.0	0.0007877	0.0002742	0.0001647	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.537288	Polymorphism

DBSNP ID

1 combination linked to FUS:c.1453C>T, p.Arg485Trp

1 disease linked to FUS:c.1453C>T, p.Arg485Trp

Amyotrophic lateral sclerosis

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