Details for Combination OLI1488

VARIANTS HOXB3:c.859G>A, p.Glu287Lys in Heterozygous form; SLC26A4:c.919-2A>G, in Heterozygous form
GENE COMBINATION HOXB3; SLC26A4
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 34374102
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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