Details for Combination OLI473

VARIANTS DUOX2:c.3329G>A, p.Arg1110Gln in Heterozygous form; SLC26A4:p.Tyr78His in Heterozygous form; DUOX2:p.Arg885Leu in Heterozygous form
GENE COMBINATION DUOX2; SLC26A4
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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