Details for Combination OLI1053

VARIANTS ATR:c.4610T>A, p.Leu1537Ter in Heterozygous form; POLG:c.752C>T, p.Thr251Ile in Heterozygous form; POLG:c.1760C>T, p.Pro587Leu in Heterozygous form
GENE COMBINATION ATR; POLG
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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