Details for Combination OLI1749

VARIANTS MYO7A:c.4259G>A, p.Arg1420His in Heterozygous form; SOX8:c.694A>C, p.Lys232Gln in Heterozygous form
GENE COMBINATION MYO7A; SOX8
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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
202

FUN
manualmeta
22

FINAL
manualmeta
11


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