Details for Combination OLI1498

VARIANTS JAG1:c.133G>T, p.Val45Leu in Heterozygous form; DUOXA1:c.937A>G, p.Ser313Gly in Heterozygous form
GENE COMBINATION DUOXA1; JAG1
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
011

FUN
manualmeta
00

FINAL
manualmeta
00


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