Details for Combination OLI1121

VARIANTS BBS2:c.374T>G, p.Leu125Arg in Homozygous form; BBS12:c.1064G>A, p.Arg355Gln in Heterozygous form; BBS4:c.181G>A, p.Glu61Lys in Heterozygous form
GENE COMBINATION BBS12; BBS2; BBS4
OLIGOGENIC EFFECT Unknown
ETHNICITY Native American
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 21344540
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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