Details for Combination OLI1437

VARIANTS BBS1:c.118delT, p.Cys40AlafsTer2 in Heterozygous form; BBS1:c.1645G>T, p.Glu549Ter in Heterozygous form; MKKS:c.724G>T, p.Ala242Ser in Heterozygous form
GENE COMBINATION BBS1; MKKS
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
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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