Details for Combination OLI324

VARIANTS BBS10:c.765G>A, p.Met255Ile in Heterozygous form; BBS1:c.46A>T, p.Ser16Cys in Heterozygous form; BBS1:c.1285dup, p.Arg429ProfsTer72 in Heterozygous form; CEP290:c.829G>C, p.Glu277Gln in Heterozygous form
GENE COMBINATION BBS1; BBS10; CEP290
OLIGOGENIC EFFECT Monogenic+Modifier
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 31196119
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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