Details for Combination OLI1048

VARIANTS APC2:c.2887C>T, p.Arg963Trp in Heterozygous form; ATG2A:c.4414G>C, p.Gly1472Arg in Heterozygous form; COL6A1:c.350T>C, p.Val117Ala in Heterozygous form; KPNA2:c.445T>C, p.Ser149Pro in Heterozygous form
GENE COMBINATION APC2; ATG2A; COL6A1; KPNA2
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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