Details for Combination OLI589

VARIANTS TSHR:p.Pro162Ala in Heterozygous form; TSHR:p.Arg109Gln in Heterozygous form; FOXE1:p.Ala248Gly in Heterozygous form
GENE COMBINATION FOXE1; TSHR
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 28444304
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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