Details for Combination OLI1524

VARIANTS RNF216:c.785G>A, p.Arg262His in Heterozygous form; GLI2:c.3528G>T, p.Gln1176His in Heterozygous form; MAMLD1:c.530C>T, p.Thr177Met in Hemizygous form
GENE COMBINATION GLI2; MAMLD1; RNF216
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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