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Details for SETX:c.472T>G, p.Leu158Val

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135218103	132342716

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.472T>G

PROTEIN CHANGE

p.Leu158Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0029	0.0	0.003	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003751	0.000923	0.001243	0.001985	0.0	0.004257	0.005548	0.00391	0.003854

ESP
AA	EA
0.001135	0.005465

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.722867	Polymorphism

DBSNP ID

2 combinations linked to SETX:c.472T>G, p.Leu158Val

1 disease linked to SETX:c.472T>G, p.Leu158Val

Amyotrophic lateral sclerosis

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