Details for Combination OLI1316

VARIANTS GJB2:c.299_300del, p.His100ArgfsTer14 in Homozygous form; OTOA:c.2359G>T, p.Glu787Ter in Heterozygous form
GENE COMBINATION GJB2; OTOA
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Rare genetic deafness
REFERENCES 35114279
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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