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Details for TARDBP:c.859G>A, p.Gly287Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082325	11022268

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.859G>A

PROTEIN CHANGE

p.Gly287Ser

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
1.593e-05	0.0	0.0	0.0	0.0	0.0	3.526e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.838561	Disease causing

DBSNP ID

2 combinations linked to TARDBP:c.859G>A, p.Gly287Ser

OLI1588; OLI279

1 disease linked to TARDBP:c.859G>A, p.Gly287Ser

Amyotrophic lateral sclerosis

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