Details for Combination OLI1005

VARIANTS AR:c.2227A>G, p.Met743Val in Heterozygous form; PHF6:c.440A>G, p.Asn147Ser in Heterozygous form
GENE COMBINATION AR; PHF6
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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