Details for Combination OLI1510

VARIANTS NR5A1:c.1223A>C, p.His408Pro in Heterozygous form; MAP3K1:c.3418A>G, p.Met1140Val in Heterozygous form; CTU2:c.710C>T, p.Aal237Val in Heterozygous form
GENE COMBINATION CTU2; MAP3K1; NR5A1
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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