Details for Combination OLI192

VARIANTS GJB3:c.497A>G, p.Asn166Ser in Heterozygous form; GJB2:c.235delC, p.Leu79CysfsTer3 in Heterozygous form
GENE COMBINATION GJB2; GJB3
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 19050930
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
02


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