Details for Combination OLI1415

VARIANTS PROP1:c.152G>T, p.Gly51Val in Heterozygous form; Copy Number Variant deletion on chromosome X of the whole gene in the gene ANOS1 in Heterozygous form
GENE COMBINATION ANOS1; PROP1
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
000

FUN
manualmeta
00

FINAL
manualmeta
00


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