Details for Combination OLI083

VARIANTS BBS10:p.Cys91Trp in Heterozygous form; BBS10:c.2119_2120del, p.Val707Ter in Heterozygous form; BBS5:p.Asn184Ser in Heterozygous form
GENE COMBINATION BBS10; BBS5
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615995; 615993; 209900; 236700; 615983; 615994; 615992; 615982; 605231; 615981; 615984; 615990; 615986; 615996; 615988; 615989; 615987; 617119; 203800; 600151; 615985; 615991; 617406
DISEASES Bardet-Biedl syndrome; Alström syndrome
REFERENCES 20472660
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1303

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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