Details for Combination OLI1501

VARIANTS NKX2-1:c.1054G>A, p.Gly352Ser in Heterozygous form; DUOX2:c.1097C>T, p.Ala366Val in Heterozygous form; TG:c.6791G>T, p.Cys2264Phe in Heterozygous form
GENE COMBINATION DUOX2; NKX2-1; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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