Details for Combination OLI470

VARIANTS DUOXA2:p.Tyr246Ter in Heterozygous form; TG:p.Val1738Ile in Heterozygous form; TG:p.Ser1912Asn in Heterozygous form; DUOX2:p.Asp137Glu in Heterozygous form; DUOX2:p.Arg432His in Heterozygous form
GENE COMBINATION DUOX2; 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
000

FUN
manualmeta
00

FINAL
manualmeta
00


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