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Details for TARDBP:p.Gly294Ala

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082347	11022290

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gly294Ala

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
Tolerated	Benign	2.379157	Disease causing

DBSNP ID

3 combinations linked to TARDBP:p.Gly294Ala

OLI1309; OLI1310; OLI1312

3 diseases linked to TARDBP:p.Gly294Ala

NON RARE IN EUROPE: Alzheimer disease; Frontotemporal dementia; Amyotrophic lateral sclerosis

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