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Details for TARDBP:p.Gly298Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082359	11022302

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gly298Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.04007	Disease causing

DBSNP ID

1 combination linked to TARDBP:p.Gly298Val

1 disease linked to TARDBP:p.Gly298Val

Amyotrophic lateral sclerosis

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