Details for Combination OLI502

VARIANTS SLC26A4:p.Glu29Gln in Heterozygous form; FOXI1:p.Gly258Glu in Heterozygous form
GENE COMBINATION FOXI1; SLC26A4
OLIGOGENIC EFFECT True Digenic
ETHNICITY Unknown
OMIM IDS 274600
DISEASES Pendred syndrome
REFERENCES 17503324
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
000

FUN
manualmeta
11

FINAL
manualmeta
11
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