Details for Combination OLI1325

VARIANTS SOX9:c.283G>A, p.Val95Ile in Heterozygous form; HS6ST1:c.917G>A, p.Arg306Gln in Heterozygous form; IL17RD:c.1696C>T, p.Pro566Ser in Heterozygous form
GENE COMBINATION HS6ST1; IL17RD; SOX9
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Non-acquired combined pituitary hormone deficiency
REFERENCES 35805171
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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