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Details for TARDBP:c.1169A>G, p.Asn390Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082635	11022578

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1169A>G

PROTEIN CHANGE

p.Asn390Ser

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
2.153e-05	0.0	0.0	0.0	0.0	0.0	4.696e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.734673	Disease causing

DBSNP ID

1 combination linked to TARDBP:c.1169A>G, p.Asn390Ser

1 disease linked to TARDBP:c.1169A>G, p.Asn390Ser

Facial onset sensory and motor neuronopathy

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