Details for Combination OLI1315

VARIANTS GJB2:c.427C>T, p.Arg143Trp in Heterozygous form; GJB2:c.235delC, p.Leu79fs in Heterozygous form; GJB2:c.109G>A, p.Val37Ile in Heterozygous 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
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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