Details for Combination OLI1497

VARIANTS JAG1:c.526G>A, p.Val176Ile in Heterozygous form; DUOX2:c.3329G>A, p.Arg1110Gln in Heterozygous form; DUOXA1:c.503C>T, p.Thr168Met in Heterozygous form
GENE COMBINATION DUOX2; DUOXA1; JAG1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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