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Details for NME8:c.169A>G, p.Asn57Asp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
37890308	37850706

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.169A>G

PROTEIN CHANGE

p.Asn57Asp

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
7.967e-06	0.0	0.0	0.0	0.0	0.0	1.764e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	1.772351	Polymorphism

DBSNP ID

1 combination linked to NME8:c.169A>G, p.Asn57Asp

1 disease linked to NME8:c.169A>G, p.Asn57Asp

Amyotrophic lateral sclerosis

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