Details for Combination OLI1076

VARIANTS TSHR:c.2272G>A, p.Glu758Lys in Heterozygous form; DUOX2:c.2654G>T, p.Arg885Leu in Heterozygous form
GENE COMBINATION DUOX2; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0222

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
02


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