Details for Combination OLI1528

VARIANTS HSD17B6:c.830C>T, p.Pro277Leu in Heterozygous form; FOXP1:c.16T>C, p.Phe6Leu in Heterozygous form; FGFR3:c.1885G>A, p.Glu629Lys in Heterozygous form
GENE COMBINATION FGFR3; FOXP1; HSD17B6
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
011

FUN
manualmeta
00

FINAL
manualmeta
00


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