Details for Combination OLI616

VARIANTS BBS2:c.367A>G, p.Ile123Val in Homozygous form; Copy Number Variant deletion on chromosome 2 of the whole gene in the gene NPHP1 in Homozygous form
GENE COMBINATION BBS2; NPHP1
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
3303

VAR
manualknowledgemeta
000

FUN
manualmeta
11

FINAL
manualmeta
00


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