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Details for MATR3:c.2533A>G, p.Lys845Glu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
138665073	139329384

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2533A>G

PROTEIN CHANGE

p.Lys845Glu

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
7.987e-06	0.0	2.893e-05	0.0	0.0	0.0	8.835e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.744177	Polymorphism

DBSNP ID

1 combination linked to MATR3:c.2533A>G, p.Lys845Glu

1 disease linked to MATR3:c.2533A>G, p.Lys845Glu

Amyotrophic lateral sclerosis

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