Details for Combination OLI986

VARIANTS TSHR:c.679G>A, p.Gly227Arg in Heterozygous form; DUOX2:c.127A>T, p.Asn43Tyr in Heterozygous form
GENE COMBINATION DUOX2; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34456971; 37390946
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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