Details for PMM2:c.422G>A, p.Arg141His

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
89050108811153
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PMM2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000303.2
CDNA CHANGE c.422G>A
PROTEIN CHANGE p.Arg141His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00360.00080.01150.00.00890.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0040680.00091740.0020450.0077040.00013270.0082370.0056830.0046770.0009415

ESP
AAEA
0.00091030.005359
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.650463Disease causing
DBSNP ID rs28936415
1 combination linked to PMM2:c.422G>A, p.Arg141His OLI329
1 disease linked to PMM2:c.422G>A, p.Arg141His Amyotrophic lateral sclerosis
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