Details for Combination OLI669

VARIANTS NR5A1:c.1183_1185delGAG, p.Glu395del in Heterozygous form; ZFPM2:c.1632G>A, p.Met544Ile in Heterozygous form
GENE COMBINATION NR5A1; ZFPM2
OLIGOGENIC EFFECT True Digenic
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 33202802
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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