Details for Combination OLI515

VARIANTS TCIRG1: in Heterozygous form; CLCN7:c.857G>C, p.Arg286Pro in Heterozygous form
GENE COMBINATION CLCN7; TCIRG1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Osteopetrosis and related disorders
REFERENCES 30431110
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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