Details for Combination OLI1174

VARIANTS DUOXA2:c.739G>C, p.Gly247Arg in Heterozygous form; TSHR:c.1574T>C, p.Phe525Ser in Heterozygous form; TPO:c.2735dupT, p.Gln913Profs in Heterozygous form
GENE COMBINATION DUOXA2; TPO; 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
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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