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Details for GRN:c.302G>A, p.Arg101Gln

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
42427072	44349704

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.302G>A

PROTEIN CHANGE

p.Arg101Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.001	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.187e-05	0.0	5.786e-05	0.0	0.0001088	0.0	0.0	0.0	0.0001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.375981	Polymorphism

DBSNP ID

1 combination linked to GRN:c.302G>A, p.Arg101Gln

1 disease linked to GRN:c.302G>A, p.Arg101Gln

Amyotrophic lateral sclerosis

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