Details for Combination OLI060

VARIANTS TMPRSS3:c.208delC, p.His70ThrfsTer19 in Heterozygous form; TMPRSS3:c.579dupA, p.Cys194MetfsTer17 in Heterozygous form; GJB2:c.35delG, p.Gly12ValfsTer2 in Heterozygous form
GENE COMBINATION GJB2; TMPRSS3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 26036852
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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