Details for Combination OLI1057

VARIANTS ATG4C:c.774_777delTTAT, p.Ile258MetfsTer13 in Heterozygous form; ATM:c.4829G>C, p.Arg1610Thr in Heterozygous form; PRIM1:c.911G>T, p.Arg304Leu in Heterozygous form
GENE COMBINATION ATG4C; ATM; PRIM1
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


Found any issues with the data on this page? Report this entry.