Details for PMM2:c.640G>A, p.Gly214Ser

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
89415818847724
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PMM2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000303.2
CDNA CHANGE c.640G>A
PROTEIN CHANGE p.Gly214Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging5.12888Disease causing
DBSNP ID rs1555453238
1 combination linked to PMM2:c.640G>A, p.Gly214Ser OLI503
1 disease linked to PMM2:c.640G>A, p.Gly214Ser X-linked cerebellar ataxia
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