Details for Combination OLI1001

VARIANTS AR:c.1175C>G, p.Pro392Arg in Heterozygous form; AR:c.2521C>T, p.Arg841Cys in Heterozygous form; ESR1:c.437C>A, p.Pro146Gln in Heterozygous form
GENE COMBINATION AR; ESR1
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
0022

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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