Details for Combination OLI1545

VARIANTS AR:c.2521C>G, p.Arg841Gly in Hemizygous form; GHR:c.1516G>A, p.Val506Met in Heterozygous form
GENE COMBINATION AR; GHR
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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