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Details for SETX:c.992T>C, p.Ile331Thr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135206682	132331295

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.992T>C

PROTEIN CHANGE

p.Ile331Thr

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
1.193e-05	0.000123	0.0	0.0	0.0	0.0	8.794e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.083269	Disease causing

DBSNP ID

1 combination linked to SETX:c.992T>C, p.Ile331Thr

1 disease linked to SETX:c.992T>C, p.Ile331Thr

Amyotrophic lateral sclerosis

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