Details for Combination OLI1747

VARIANTS COL27A1:c.3715C>T, p.Arg1239Trp in Heterozygous form; TYRO3:c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC, p.Ala223HisfsTer21 in Heterozygous form
GENE COMBINATION COL27A1; TYRO3
OLIGOGENIC EFFECT Unknown
ETHNICITY African
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 37432935
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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