Details for Combination OLI1607

VARIANTS TPO:c.1978C>G, p.Gln660Glu in Heterozygous form; KMT2D:c.13951C>T, p.His4651Tyr in Heterozygous form
GENE COMBINATION KMT2D; TPO
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 35272499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


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