Details for Combination OLI079

VARIANTS BBS10:p.Lys188Thr in Homozygous form; BBS10:p.Ala636Val in Homozygous form; BBS1:p.Ile389= in Heterozygous form; BBS12:p.Thr501= in Heterozygous form
GENE COMBINATION BBS1; BBS10; BBS12
OLIGOGENIC EFFECT Unknown
ETHNICITY Turkish
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 20472660
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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