Details for PMM2:c.368G>A, p.Arg123Gln

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
89049568811099
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PMM2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000303.2
CDNA CHANGE c.368G>A
PROTEIN CHANGE p.Arg123Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011420.00.00013420.00.00013285.684e-050.00019090.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.622756Disease causing
DBSNP ID rs141498002
1 combination linked to PMM2:c.368G>A, p.Arg123Gln OLI503
1 disease linked to PMM2:c.368G>A, p.Arg123Gln X-linked cerebellar ataxia
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