Details for Combination OLI1481

VARIANTS TSHR:c.326G>A, p.Arg109Gln in Heterozygous form; DUOX2:c.3632G>A, p.Arg1211His in Heterozygous form
GENE COMBINATION DUOX2; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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