Details for Combination OLI013

VARIANTS GJB2:c.487A>G, p.Met163Val in Heterozygous form; TMPRSS3:c.895G>A, p.Ala299Thr in Heterozygous form
GENE COMBINATION GJB2; TMPRSS3
OLIGOGENIC EFFECT True Digenic
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 28263784
SCORES
FAMmanual
2

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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