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Details for SETX:p.Ile591Val

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135205214	132329827

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ile591Val

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
6.375e-05	0.0	0.0	0.0	0.0	0.0	1.762e-05	0.0	0.0004578

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.680178	Polymorphism

DBSNP ID

1 combination linked to SETX:p.Ile591Val

1 disease linked to SETX:p.Ile591Val

Amyotrophic lateral sclerosis

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