Details for Combination OLI1422

VARIANTS ANOS1:c.814C>T, p.Arg272Ter in Hemizygous form; DCC:c.3470A>G, p.His1157Arg in Heterozygous form
GENE COMBINATION ANOS1; DCC
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
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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