Details for Combination OLI1059

VARIANTS COL6A2:c.343C>T, p.Arg115Trp in Heterozygous form; LRP5:c.4511C>T, p.Pro1504Leu in Heterozygous form; APC2:c.932C>T, p.Ser311Leu in Heterozygous form
GENE COMBINATION APC2; COL6A2; LRP5
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618723; 618078; 614324; 300510; 618117
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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