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Details for FUS:c.1471C>T, p.Arg491Cys

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
31202361	31191040

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1471C>T

PROTEIN CHANGE

p.Arg491Cys

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
3.61e-05	6.503e-05	0.0001158	0.0	0.0	0.0	0.0	0.0	0.0001308

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.46859	Disease causing

DBSNP ID

1 combination linked to FUS:c.1471C>T, p.Arg491Cys

2 diseases linked to FUS:c.1471C>T, p.Arg491Cys

Frontotemporal dementia; Amyotrophic lateral sclerosis

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