Details for Combination OLI403

VARIANTS GNA14:c.989_990delCA, p.Thr330ArgfsTer67 in Heterozygous form; HS1BP3:c.94G>T, p.Gly32Cys in Heterozygous form
GENE COMBINATION GNA14; HS1BP3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Parkinson disease; Benign essential blepharospasm
REFERENCES 29770609
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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