Details for Combination OLI1666

VARIANTS NPHP4:c.2219G>A, p.Arg740His in Heterozygous form; MKS1:c.1505C>G, p.Ser502Trp in Heterozygous form
GENE COMBINATION MKS1; NPHP4
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
0022

VAR
manualknowledgemeta
101

FUN
manualmeta
02

FINAL
manualmeta
00


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