Details for Combination OLI572

VARIANTS NR5A1:c.58G>C, p.Val20Leu in Heterozygous form; INHA:c.675T>G, p.Ser225Arg in Heterozygous form
GENE COMBINATION INHA; NR5A1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Disorder of sex development
REFERENCES 29891883
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
00


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