Details for Combination OLI093

VARIANTS SMC1B:c.662T>C, p.Ile191Thr in Heterozygous form; NOBOX:c.271G>T, p.Gly91Trp in Heterozygous form; NOBOX:c.1856C>T, p.Pro619Leu in Heterozygous form
GENE COMBINATION NOBOX; SMC1B
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 618117; 614324; 300510; 618078; 618723; 233300
DISEASES Primary ovarian failure
REFERENCES 27603904
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
202

FUN
manualmeta
22

FINAL
manualmeta
11


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