Details for Combination OLI1727

VARIANTS NR5A1:c.559delG, p.Ala187fs in Heterozygous form; FOXL2:c.1045C>G, p.Arg349Gly in Heterozygous form
GENE COMBINATION FOXL2; NR5A1
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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