Details for Combination OLI1416

VARIANTS IL17RD:c.2009C>T, p.Pro670Leu in Heterozygous form; RNF216:c.2251C>T, p.Arg751Cys in Heterozygous form; RNF216:c.2149C>T, p.Arg717Cys in Heterozygous form
GENE COMBINATION IL17RD; RNF216
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 228300
DISEASES Hypogonadotropic hypogonadism with absent puberty phenotype
REFERENCES 36407308
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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