This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for SETX:c.59G>A, p.Arg20His

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135224757	132349370

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.59G>A

PROTEIN CHANGE

p.Arg20His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.005	0.0	0.0043	0.001	0.0109	0.0102

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.009245	0.001107	0.003932	0.01587	0.0	0.01603	0.009441	0.01042	0.01718

ESP
AA	EA
0.001816	0.01047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.413071	Polymorphism

DBSNP ID

1 combination linked to SETX:c.59G>A, p.Arg20His

1 disease linked to SETX:c.59G>A, p.Arg20His

Amyotrophic lateral sclerosis

Found any issues with the data on this page? Report this entry.