Details for Combination OLI1490

VARIANTS EYA1:c.743C>T, p.Thr248Met in Heterozygous form; TPO:c.2647C>T, p.Pro883Ser in Heterozygous form
GENE COMBINATION EYA1; TPO
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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