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Details for SETX:c.2975A>G, p.Lys992Arg

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135204010	132328623

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2975A>G

PROTEIN CHANGE

p.Lys992Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0066	0.0015	0.0101	0.0	0.0179	0.0061

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01522	0.002405	0.007781	0.007469	0.0	0.05052	0.01774	0.01542	0.007873

ESP
AA	EA
0.002724	0.01628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.4458	Polymorphism

DBSNP ID

1 combination linked to SETX:c.2975A>G, p.Lys992Arg

1 disease linked to SETX:c.2975A>G, p.Lys992Arg

Amyotrophic lateral sclerosis

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