Details for Combination OLI014

VARIANTS PROKR2:c.253C>T, p.Arg85Cys in Heterozygous form; WDR11:c.1306A>G, p.Ile436Val in Heterozygous form
GENE COMBINATION PROKR2; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY Ashkenazi Jewish
OMIM IDS N.A.
DISEASES Pituitary stalk interruption syndrome
REFERENCES 28453858
SCORES
FAMmanual
2

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
202

FUN
manualmeta
22

FINAL
manualmeta
22


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