Details for Combination OLI1122

VARIANTS BBS2:c.1237C>T, p.Arg413Ter in Homozygous form; BBS1:c.1338C>T, p.Thr446= in Heterozygous form
GENE COMBINATION BBS1; BBS2
OLIGOGENIC EFFECT Unknown
ETHNICITY Arabic
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
011

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.