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Details for TARDBP:c.881G>T, p.Gly294Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082347	11022290

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.881G>T

PROTEIN CHANGE

p.Gly294Val

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
1.194e-05	0.0	0.0	0.0	0.0	0.0	2.644e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.64195	Disease causing

DBSNP ID

1 combination linked to TARDBP:c.881G>T, p.Gly294Val

1 disease linked to TARDBP:c.881G>T, p.Gly294Val

Amyotrophic lateral sclerosis

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