Details for Combination OLI1043

VARIANTS FIGLA:c.364delG, p.Glu122LysfsTer45 in Heterozygous form; NOBOX:c.1626delC, p.Phe543SerfsTer7 in Heterozygous form; NR5A1:c.1063G>A, p.Val355Met in Heterozygous form; NCOR2:c.3755C>A, p.Pro1252Gln in Heterozygous form
GENE COMBINATION FIGLA; NCOR2; NOBOX; NR5A1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618117; 618723; 300510; 614324; 618078
DISEASES Primary ovarian failure
REFERENCES 34803902
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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