Details for Combination OLI1505

VARIANTS DUOXA2:c.413dupA, p.Tyr138_Ala139_delinsTer in Heterozygous form; HES1:c.816C>A, p.Asp272Glu in Heterozygous form; TPO:c.2397G>T, p.Glu799Asp in Heterozygous form
GENE COMBINATION DUOXA2; HES1; TPO
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
1

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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