Details for Combination OLI1522

VARIANTS MAMLD1:c.2573C>T, p.Pro858Leu in Hemizygous form; RXFP2:c.1904C>T, p.Ala635Val in Heterozygous form; FLRT3:c.325T>G, p.Leu109Val in Heterozygous form; CTU2:c.1127G>A, p.Arg376Gln in Heterozygous form
GENE COMBINATION CTU2; FLRT3; MAMLD1; RXFP2
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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