Details for Combination OLI996

VARIANTS AR:c.2636T>G, p.Phe879Cys in Heterozygous form; DGKK:c.316G>A, p.Ala106Thr in Heterozygous form; EGF:c.16A>G, p.Ile6Val in Heterozygous form; FKBP4:c.1066C>T, p.Leu356Phe in Heterozygous form; GJA4:c.727C>T, p.Arg243Trp in Heterozygous form
GENE COMBINATION AR; DGKK; EGF; FKBP4; GJA4
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
000

FUN
manualmeta
00

FINAL
manualmeta
00


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