Details for Combination OLI1618

VARIANTS DHX37:c.2995G>A, p.Val999Met in Heterozygous form; NR5A1:c.11C>A, p.Ser4Ter in Heterozygous form
GENE COMBINATION DHX37; NR5A1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 37240737
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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