Details for Combination OLI1242

VARIANTS SIX3:c.221C>G, p.Pro74Arg in Heterozygous form; POU1F1:c.148T>G, p.Ser50Ala in Heterozygous form
GENE COMBINATION POU1F1; SIX3
OLIGOGENIC EFFECT Unknown
ETHNICITY European
OMIM IDS N.A.
DISEASES Non-acquired combined pituitary hormone deficiency
REFERENCES 35951005
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
212

FUN
manualmeta
33

FINAL
manualmeta
22


Found any issues with the data on this page? Report this entry.