Details for Combination OLI1084

VARIANTS NKX2-1:c.1106C>T, p.Ala369Val in Heterozygous form; DUOX2:c.1428C>A, p.Asn476Lys in Heterozygous form; TG:p.Ser1222Leu 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
000

FUN
manualmeta
00

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.