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Details for TARDBP:c.943G>A, p.Ala315Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082409	11022352

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.943G>A

PROTEIN CHANGE

p.Ala315Thr

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
3.982e-06	0.0	0.0	0.0	0.0	0.0	8.817e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.662089	Disease causing

DBSNP ID

1 combination linked to TARDBP:c.943G>A, p.Ala315Thr

1 disease linked to TARDBP:c.943G>A, p.Ala315Thr

Amyotrophic lateral sclerosis

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