Details for Combination OLI1066

VARIANTS HDAC5:c.446A>G, p.Glu149Gly in Heterozygous form; AKAP9:c.4351A>G, p.Met1451Val in Heterozygous form
GENE COMBINATION AKAP9; HDAC5
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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