Details for Combination OLI623

VARIANTS BBS10:c.145C>T, p.Arg49Trp in Heterozygous form; TTC8:c.1253A>G, p.Gln418Arg in Heterozygous form; Copy Number Variant deletion on chromosome 2 of the whole gene in the gene NPHP1 in Heterozygous form
GENE COMBINATION BBS10; NPHP1; TTC8
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
1122

VAR
manualknowledgemeta
101

FUN
manualmeta
12

FINAL
manualmeta
00


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