Details for Combination OLI1554

VARIANTS GLI2:c.1811A>C, p.His604Pro in Heterozygous form; HSD17B6:c.285G>T, p.Gln95His in Heterozygous form; FOXP1:c.1501G>A, p.Ala501Thr in Heterozygous form; HS6ST1:c.1144C>T, p.Arg382Trp in Heterozygous form
GENE COMBINATION FOXP1; GLI2; HS6ST1; 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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