Details for Combination OLI1617

VARIANTS DHX37:c.1399C>G, p.Leu467Val in Heterozygous form; NR5A1:c.288_304del, p.Met98GlyfsTer45 in Heterozygous form
GENE COMBINATION DHX37; NR5A1
OLIGOGENIC EFFECT True Digenic
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 37240737
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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