Details for Combination OLI1039

VARIANTS LARS2:c.1021T>G, p.Cys341Gly in Heterozygous form; LARS2:c.1717T>C, p.Phe573Leu in Heterozygous form; MLH3:c.3466G>A, p.Val1156Ile in Heterozygous form; POLE:c.4900C>T, p.Arg1634Cys in Heterozygous form; ANAPC1:c.2279C>G, p.Pro760Arg in Heterozygous form; ATR:c.2783A>G, p.Gln928Arg in Heterozygous form
GENE COMBINATION ANAPC1; ATR; LARS2; MLH3; POLE
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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