Details for Combination OLI1006

VARIANTS Copy Number Variant deletion on chromosome X of the exon2 8 in the gene AR in Heterozygous form; BMP2:c.393A>T, p.Arg131Ser in Heterozygous form
GENE COMBINATION AR; BMP2
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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