Details for Combination OLI668

VARIANTS NR5A1:c.614_615insC, p.Gln206ThrfsTer20 in Heterozygous form; AMH:c.428C>T, p.Thr143Ile in Heterozygous form
GENE COMBINATION AMH; NR5A1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 33202802
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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