Details for Combination OLI1551

VARIANTS MAMLD1:c.2075C>T, p.Ala692Val in Hemizygous form; DMRT1:c.149G>C, p.Ser50Thr in Heterozygous form
GENE COMBINATION DMRT1; MAMLD1
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
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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