Details for Combination OLI209

VARIANTS PARK7:c.115G>T, p.Ala39Ser in Heterozygous form; PINK1:c.1196C>T, p.Pro399Leu in Heterozygous form
GENE COMBINATION PARK7; PINK1
OLIGOGENIC EFFECT True Digenic
ETHNICITY East Asian
OMIM IDS 615528; 610297; 613643; 605909; 300557; 600116; 606324; 616840; 606852; 602404
DISEASES Young-onset Parkinson disease
REFERENCES 16632486
SCORES
FAMmanual
1

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
3323

VAR
manualknowledgemeta
313

FUN
manualmeta
33

FINAL
manualmeta
22


Found any issues with the data on this page? Report this entry.