Details for Combination OLI592

VARIANTS DUOX2:p.Glu641Lys in Heterozygous form; SLC26A4:IVS13+9C>T, in Heterozygous form
GENE COMBINATION DUOX2; SLC26A4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28444304
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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