Details for Combination OLI1314

VARIANTS GJB2:c.235delC, p.Leu79fs in Homozygous form; EYA1:c.1276G>A, p.Gly426Ser in Heterozygous form
GENE COMBINATION EYA1; GJB2
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
111

FUN
manualmeta
00

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.