Details for Combination OLI1023

VARIANTS DUOX2:c.2597T>G, p.Met866Arg in Heterozygous form; TG:c.2381G>T, p.Gly794Val in Heterozygous form
GENE COMBINATION DUOX2; TG
OLIGOGENIC EFFECT Unknown
ETHNICITY Mixed
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34248839
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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