Details for Combination OLI1041

VARIANTS RYR3:c.393C>A, p.Asp131Glu in Heterozygous form; NCOR2:c.3760C>T, p.Arg1254Cys in Heterozygous form; RAD52:c.761C>T, p.Thr254Met in Heterozygous form; MCM9:c.970G>T, p.Val324Leu in Heterozygous form; RAD54L:c.604C>T, p.Arg202Cys in Heterozygous form
GENE COMBINATION MCM9; NCOR2; RAD52; RAD54L; RYR3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 618117; 614324; 300510; 618078; 618723; 233300
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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