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Details for FUS:c.1574C>T, p.Pro525Leu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
31202752	31191431

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1574C>T

PROTEIN CHANGE

p.Pro525Leu

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
3.977e-06	0.0	0.0	0.0	0.0	0.0	8.794e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.473452	Disease causing

DBSNP ID

4 combinations linked to FUS:c.1574C>T, p.Pro525Leu

OLI1306; OLI1307; OLI278; OLI945

2 diseases linked to FUS:c.1574C>T, p.Pro525Leu

Amyotrophic lateral sclerosis; Juvenile amyotrophic lateral sclerosis

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