Details for Combination OLI1533

VARIANTS SRD5A2:c.607G>A, p.Gly203Ser in Homozygous form; GHR:c.613G>A, p.Glu205Lys in Heterozygous form
GENE COMBINATION GHR; SRD5A2
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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