Details for Combination OLI1722

VARIANTS SMC1B:c.863A>G, p.Glu288Gly in Heterozygous form; FSHR:c.884C>T, p.Ser295Phe in Heterozygous form; FSHR:c.374T>G, p.Leu125Arg in Heterozygous form
GENE COMBINATION FSHR; SMC1B
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 618078; 614324; 618723; 233300; 618117; 300510
DISEASES Primary ovarian failure
REFERENCES 36793102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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