Details for Combination OLI1805

VARIANTS TPO:c.670_672del, p.Asp224del in Heterozygous form; TPO:c.2268dupT, p.Glu757Ter in Heterozygous form; DUOX2:c.3329G>A, p.Arg1110Gln in Heterozygous form
GENE COMBINATION DUOX2; TPO
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 37390946
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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