Details for Combination OLI1494

VARIANTS TSHR:c.611C>T, p.Ala204Val in Heterozygous form; DUOX2:c.4537G>C, p.Gly1513Arg in Heterozygous form
GENE COMBINATION DUOX2; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
2

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
02


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