Details for Combination OLI1568

VARIANTS NR0B1:c.979G>A, p.Glu327Lys in Hemizygous form; SRA1:c.59C>T, p.Pro20Leu in Heterozygous form; SOX8:c.1144G>A, p.Asp382Asn in Heterozygous form
GENE COMBINATION NR0B1; SOX8; SRA1
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
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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