Details for Combination OLI1312

VARIANTS TARDBP:p.Gly294Ala in Heterozygous form; PRKN:p.Lys32Thr in Heterozygous form; LRRK2:p.Gly2019Ser in Heterozygous form
GENE COMBINATION LRRK2; PRKN; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
OMIM IDS 607485; 600795; 600274; 172700
DISEASES Frontotemporal dementia
REFERENCES 35793404
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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