Details for Combination OLI1444

VARIANTS BBS1:c.1169T>G, p.Met390Arg in Heterozygous form; BBS1:c.837del, p.Lys280SerfsTer9 in Heterozygous form; PDE6B:c.1798G>A, p.Asp600Asn in Heterozygous form
GENE COMBINATION BBS1; PDE6B
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615995; 615993; 209900; 615983; 615994; 615992; 615982; 605231; 615981; 615984; 615990; 615986; 615996; 615988; 615989; 615987; 617119; 600151; 615985; 615991; 617406
DISEASES Bardet-Biedl syndrome
REFERENCES 35835773
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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