Details for Combination OLI766

VARIANTS MAP3K1:c.710A>G, p.Gln237Arg in Heterozygous form; NR5A1:c.937C>T, p.Arg313Cys in Heterozygous form
GENE COMBINATION MAP3K1; NR5A1
OLIGOGENIC EFFECT Unknown
ETHNICITY Egyptian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 27169744; 33742552
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
101

FUN
manualmeta
11

FINAL
manualmeta
00


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