Details for Combination OLI018

VARIANTS SRA1:c.535T>C, p.Ile179Thr in Heterozygous form; RNF216:c.2364G>A, p.Asp792Asn in Heterozygous form
GENE COMBINATION RNF216; SRA1
OLIGOGENIC EFFECT True Digenic
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypogonadotropic hypogonadism
REFERENCES 32982993
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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