Details for Combination OLI1671

VARIANTS BBS10:c.1335_1338del, p.Tyr448ArgfsTer39 in Homozygous form; P3H2:c.278C>T, p.Pro93Leu in Heterozygous form; BBS10:c.1249G>A, p.Ala417Thr in Heterozygous form
GENE COMBINATION BBS10; P3H2
OLIGOGENIC EFFECT Unknown
ETHNICITY South Asian
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 37431782
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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