Details for Combination OLI1493

VARIANTS TSHR:c.1582C>A, p.Arg528Ser in Heterozygous form; TG:c.521G>T, p.Gly174Val in Heterozygous form
GENE COMBINATION TG; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
2

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
02


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