Details for Combination OLI1090

VARIANTS EYA1:c.890G>A, p.Arg297Gln in Heterozygous form; TG:c.2183C>A, p.Thr728Lys in Heterozygous form
GENE COMBINATION EYA1; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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