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Details for SETX:c.5322G>T, p.Gln1774His

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135187196	132311809

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5322G>T

PROTEIN CHANGE

p.Gln1774His

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
1.991e-05	0.0	0.0	0.0	0.0	0.0	4.401e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.495238	Polymorphism

DBSNP ID

1 combination linked to SETX:c.5322G>T, p.Gln1774His

1 disease linked to SETX:c.5322G>T, p.Gln1774His

Amyotrophic lateral sclerosis

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