Details for Combination OLI474

VARIANTS TPO:p.Arg846Trp in Heterozygous form; TG:p.Arg896Gln in Heterozygous form; DUOX2:c.3693+1G>T, in Heterozygous form; DUOX2:p.Val407Phe in Heterozygous form
GENE COMBINATION DUOX2; TG; TPO
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 32319661
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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