Details for Combination OLI1482

VARIANTS TSHR:c.2098A>G, p.Lys700Gly in Heterozygous form; DUOX2:c.1300_1320del, p.434_440del in Heterozygous form
GENE COMBINATION DUOX2; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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