Details for Combination OLI992

VARIANTS DUOXA2:c.738C>A, p.Tyr246Ter in Heterozygous form; DUOX2:c.959T>C, p.Leu320Pro in Heterozygous form
GENE COMBINATION DUOX2; DUOXA2
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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