Details for Combination OLI1564

VARIANTS AR:c.1768G>T, p.Gly590Trp in Hemizygous form; FGFR1:c.659G>A, p.Arg220His in Heterozygous form
GENE COMBINATION AR; FGFR1
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES Syndrome with 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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