Details for Combination OLI466

VARIANTS DUOXA2:p.Arg94Cys in Heterozygous form; DUOXA2:p.Tyr246Ter in Heterozygous form; TG:p.Asn212Ser in Heterozygous form
GENE COMBINATION DUOXA2; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 32319661
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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