Details for Combination OLI1175

VARIANTS DUOX2:c.2894C>T, p.Ser965Leu in Heterozygous form; DUOX2:p.Arg885Gln in Heterozygous form; TSHR:c.1574T>C, p.Phe525Ser in Heterozygous form
GENE COMBINATION DUOX2; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34539567
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1222

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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