Details for Combination OLI563

VARIANTS DUOX2:c.2779A>G, p.Met927Val in Homozygous form; TG:c.2060delG, p.Cys687LeufsTer34 in Heterozygous form
GENE COMBINATION DUOX2; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 30154845
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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