Details for Combination OLI988

VARIANTS TSHR:c.733G>A, p.Gly245Ser in Heterozygous form; DUOX2:c.3516_3531del, p.Lys1174SerfsTer12 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
011

FUN
manualmeta
02

FINAL
manualmeta
01


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