Details for Combination OLI1499

VARIANTS NKX2-1:c.1054G>A, p.Gly352Ser in Heterozygous form; DUOX2:c.1428C>A, p.Asn476Lys in Heterozygous form; TSHR:c.2252A>G, p.Lys751Arg in Heterozygous form
GENE COMBINATION DUOX2; NKX2-1; TSHR
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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