Details for Combination OLI325

VARIANTS TTC8:c.284A>G, p.Lys95Arg in Heterozygous form; BBS4:c.332+2_332+3insTT, in Heterozygous form; BBS4:c.1091C>A, p.Ala364Glu in Heterozygous form; BBS2:c.986T>C, p.Met329Thr in Heterozygous form
GENE COMBINATION BBS2; BBS4; TTC8
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
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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