Details for Combination OLI994

VARIANTS TG:c.3808C>T, p.Arg1270Cys in Heterozygous form; DUOXA2:c.413dupA, p.Tyr138Ter in Heterozygous form
GENE COMBINATION DUOXA2; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34456971
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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