Details for Combination OLI360

VARIANTS TBK1:c.349C>T, p.Arg117Ter in Heterozygous form; OPTN:c.1243-740_1612+1292delins25, p.Gly538GlufsTer27 in Heterozygous form
GENE COMBINATION OPTN; TBK1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 172700; 607485; 600274; 600795
DISEASES Frontotemporal dementia
REFERENCES 25943890
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
202

FUN
manualmeta
22

FINAL
manualmeta
11


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