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Details for SETX:p.Ile1304Trp

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135203074	132327687

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ile1304Trp

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.336426	Polymorphism

DBSNP ID

1 combination linked to SETX:p.Ile1304Trp

1 disease linked to SETX:p.Ile1304Trp

Amyotrophic lateral sclerosis

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