Details for Combination OLI1002

VARIANTS AR:c.528C>A, p.Ser176Arg in Heterozygous form; POR:c.357G>C, p.Glu119Gln in Heterozygous form; GJA4:c.727C>T, p.Arg243Trp in Heterozygous form
GENE COMBINATION AR; GJA4; POR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development; Androgen insensitivity syndrome
REFERENCES 33750429
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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