Details for Combination OLI566

VARIANTS DUOXA2:p.Tyr246Ter in Heterozygous form; SLC26A4:c.1286C>A, p.Ala429Glu in Heterozygous form; TG:c.2762-1G>A, in Heterozygous form
GENE COMBINATION DUOXA2; SLC26A4; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 30154845
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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