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Details for FAM126A:c.1480G>A, p.Val494Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
22985294	22945675

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1480G>A

PROTEIN CHANGE

p.Val494Ile

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
0.0004188	0.0001846	0.0	0.0	0.0	0.0003698	0.0008219	0.0	3.266e-05

ESP
AA	EA
0.0004539	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.408532	Polymorphism

DBSNP ID

1 combination linked to FAM126A:c.1480G>A, p.Val494Ile

1 disease linked to FAM126A:c.1480G>A, p.Val494Ile

Amyotrophic lateral sclerosis

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