Details for PINK1:c.1612A>C, p.Thr538Pro

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
2097705020650557
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PINK1
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_032409.2
CDNA CHANGE c.1612A>C
PROTEIN CHANGE p.Thr538Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.110191Polymorphism
DBSNP ID NA
1 combination linked to PINK1:c.1612A>C, p.Thr538Pro OLI228
1 disease linked to PINK1:c.1612A>C, p.Thr538Pro Parkinson disease
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