Details for Combination OLI594

VARIANTS TPO:p.Ala489Thr in Heterozygous form; DUOX2:p.Gly201Glu in Heterozygous form; DUOX2:p.Arg701Gln in Heterozygous form; DUOX2:p.Pro982Ala in Heterozygous form; TPO:c.2395G>A, p.Glu799Lys in Heterozygous form
GENE COMBINATION DUOX2; TPO
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28444304
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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