Details for Combination OLI242

VARIANTS KCNJ10:c.581C, p.Pro194His in Heterozygous form; SLC26A4:c.1003T>C, p.Phe335Leu in Heterozygous form
GENE COMBINATION KCNJ10; SLC26A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 274600
DISEASES Pendred syndrome
REFERENCES 19426954
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
11


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