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Details for SETX:c.968G>A, p.Ser323Asn

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135206706	132331319

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.968G>A

PROTEIN CHANGE

p.Ser323Asn

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
0.0002187	0.0	0.0	0.0003968	5.437e-05	0.0001848	0.0004045	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.525222	Disease causing

DBSNP ID

1 combination linked to SETX:c.968G>A, p.Ser323Asn

1 disease linked to SETX:c.968G>A, p.Ser323Asn

Amyotrophic lateral sclerosis

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