Details for Combination OLI401

VARIANTS SRD5A2:p.Arg227Gln in Heterozygous form; NR5A1:c.1114_1116del, p.Lys372del in Heterozygous form
GENE COMBINATION NR5A1; SRD5A2
OLIGOGENIC EFFECT Unknown
ETHNICITY Indonesian
OMIM IDS 300018; 615542; 612965; 616067; 616425; 154230; 613762
DISEASES 46,XY disorder of sex development; 46,XY partial gonadal dysgenesis
REFERENCES 29027299
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
00


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