Details for Combination OLI1075

VARIANTS TSHR:c.1574T>C, p.Phe525Ser in Heterozygous form; SLC26A4:c.1226G>A, p.Arg409His in Heterozygous form
GENE COMBINATION SLC26A4; TSHR
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
111

FUN
manualmeta
00

FINAL
manualmeta
00


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