Details for Combination OLI464

VARIANTS SLC26A4:c.1300G>A, p.Ala434Thr in Heterozygous form; TRHR:c.504T>G, p.Ile168Met in Heterozygous form
GENE COMBINATION SLC26A4; TRHR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 32319661
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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