Details for Combination OLI031

VARIANTS TPO:c.483-2A>G, in Heterozygous form; TPO:c.1535C>A, p.Pro512His in Heterozygous form; TPO:c.1759G>A, p.Gly587Arg in Heterozygous form; TG:c.5042-2A>G, in Heterozygous form; DUOX2:c.1395_1396delCC, p.Gln466GlyfsTer49 in Heterozygous form
GENE COMBINATION DUOX2; TG; TPO
OLIGOGENIC EFFECT True Digenic
ETHNICITY African
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 30375286
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
12


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