Details for PRKN:p.Ala138GlyfsTer7

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT frameshift
ANNOTATION FLAG not_found_in_databases
GENE PRKN
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ala138GlyfsTer7
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to PRKN:p.Ala138GlyfsTer7 OLI128
1 disease linked to PRKN:p.Ala138GlyfsTer7 Parkinson disease
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