Details for Combination OLI1173

VARIANTS TPO:c.1477G>A, p.Gly493Ser in Heterozygous form; TPO:c.1949G>A, p.Gly650= in Heterozygous form; SLC26A4:c.1286C>A, p.Ala429Glu in Heterozygous form
GENE COMBINATION SLC26A4; TPO
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34539567
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.