Details for Combination OLI471

VARIANTS TSHR:p.Cys176Arg in Heterozygous form; TSHR:p.Lys618Ter in Heterozygous form; TPO:p.Pro883Ser in Heterozygous form
GENE COMBINATION TPO; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 32319661
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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