Details for Combination OLI1056

VARIANTS RAD52:c.388G>A, p.Glu130Lys in Heterozygous form; RBBP8:c.2516G>A, p.Arg839Gln in Heterozygous form; PLEC:c.5801G>A, p.Arg1934His in Heterozygous form
GENE COMBINATION PLEC; RAD52; RBBP8
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
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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