Details for Combination OLI1518

VARIANTS SRD5A2:c.537G>A, p.Arg179Ser in Heterozygous form; GPRC6A:c.1391T>A, p.Phe464Tyr in Heterozygous form; SOS1:c.244A>G, p.Ile82Val in Heterozygous form
GENE COMBINATION GPRC6A; SOS1; SRD5A2
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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