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Details for SETX:c.41C>T, p.Thr14Ile

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135224775	132349388

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.41C>T

PROTEIN CHANGE

p.Thr14Ile

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
3.976e-06	0.0	0.0	0.0	0.0	0.0	8.79e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.005102	Disease causing

DBSNP ID

1 combination linked to SETX:c.41C>T, p.Thr14Ile

1 disease linked to SETX:c.41C>T, p.Thr14Ile

Amyotrophic lateral sclerosis

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