Details for Combination OLI251

VARIANTS GJB2:c.235delC, p.Leu79CysfsTer3 in Heterozygous form; MITF:c.718C>T, p.Arg347Cys in Heterozygous form
GENE COMBINATION GJB2; MITF
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 27057829
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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