Details for Combination OLI094

VARIANTS FIGLA:c.122C>T, p.Ala41Val in Heterozygous form; GDF9:c.307C>T, p.Pro103Ser in Heterozygous form
GENE COMBINATION FIGLA; GDF9
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 233300; 618723; 618078; 614324; 300510; 618117
DISEASES Primary ovarian failure
REFERENCES 27603904
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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