Details for Combination OLI194

VARIANTS GJB3:c.580G>A, p.Ala194Thr in Heterozygous form; GJB2:c.299_300del, p.His100ArgfsTer14 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
011

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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