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

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
138665073139329384
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MATR3
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_018834.6
CDNA CHANGE c.2533A>G
PROTEIN CHANGE p.Lys845Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.987e-060.02.893e-050.00.00.08.835e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.744177Polymorphism
DBSNP ID NA
1 combination linked to MATR3:c.2533A>G, p.Lys845Glu OLI1636
1 disease linked to MATR3:c.2533A>G, p.Lys845Glu Amyotrophic lateral sclerosis

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