Details for Combination OLI1420

VARIANTS ANOS1:c.1449+1G>A, in Hemizygous form; CHD7:c.1117C>T, p.Leu373Phe in Heterozygous form
GENE COMBINATION ANOS1; CHD7
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
0101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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