Details for Combination OLI989

VARIANTS TG:c.6759_6765del, p.Ser2254MetfsTer88 in Heterozygous form; DUOX2:c.2654G>T, p.Arg885Leu in Heterozygous form
GENE COMBINATION DUOX2; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34456971; 37390946
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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