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Details for SETX:c.820A>G, p.Met274Val

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
135210013	132334626

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.820A>G

PROTEIN CHANGE

p.Met274Val

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
3.182e-05	0.0	0.0	0.0	0.0	0.0	4.396e-05	0.000163	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.417659	Disease causing

DBSNP ID

1 combination linked to SETX:c.820A>G, p.Met274Val

1 disease linked to SETX:c.820A>G, p.Met274Val

Amyotrophic lateral sclerosis

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