Details for Combination OLI299

VARIANTS HOXB6:p.Ser2Asn in Heterozygous form; AR:c.1995delTGAAGGCTATGAATGTCinsCAGAA, p.666delGluGlyTyrGluCysGlninsArgLys in Hemizygous form; MAMLD1:c.1985A>G, p.Asn662Ser in Hemizygous form
GENE COMBINATION AR; HOXB6; MAMLD1
OLIGOGENIC EFFECT Unknown
ETHNICITY Japanese
OMIM IDS 300633; 300758; 146450; 300856
DISEASES Non-syndromic posterior hypospadias
REFERENCES 25605705
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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