Details for Combination OLI1503

VARIANTS SHH:c.869G>A, p.Gly290Asp in Heterozygous form; DUOX2:c.2654G>T, p.Arg885Leu in Heterozygous form; TG:c.4932dupG, p.Gln1644fs in Heterozygous form
GENE COMBINATION DUOX2; SHH; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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