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 618117; 233300; 618723; 614324; 300510; 618078
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.