Details for Combination OLI620

VARIANTS BBS4:c.137A>G, p.Lys46Arg in Heterozygous form; BBS7:c.878A>C, p.Gln293Pro in Heterozygous form; IFT74:c.1735G>A, p.Val579Met in Heterozygous form; Copy Number Variant deletion on chromosome 4 of the exon16 17 in the gene BBS7 in Heterozygous form
GENE COMBINATION BBS4; BBS7; IFT74
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 27486776
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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