Details for Combination OLI565

VARIANTS DUOX2:c.227C>T, p.Pro76Leu in Heterozygous form; DUOX2:c.2048G>T, p.Arg683Leu in Heterozygous form; DUOX2:c.4027C>T, p.Leu1343Phe in Heterozygous form; TG:c.3416C>T, p.Ser1139Leu in Heterozygous form
GENE COMBINATION DUOX2; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 30154845
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
101

FUN
manualmeta
22

FINAL
manualmeta
11


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