Details for Combination OLI1487

VARIANTS DUOX2:c.1588A>T, p.Lys530Ter in Heterozygous form; SHH:c.869G>A, p.Gly290Asp in Heterozygous form
GENE COMBINATION DUOX2; SHH
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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