Database of Pathogenic Variants
Home
Variants
Diseases
Genes
About
Gene Detail
Gene Symbol
OTOF
Gene:9381
HGNC:8515
Gene Name
otoferlin
Chromosome
2
Cytogenetic Band
p23.3
RefSeq Accession
NM_001287489
Associated Diseases
Deafness, autosomal recessive, 9
Associated Variants
NM_194248.2:c.5816G>A
NM_194248.2:c.5567G>A
NM_194248.2:c.4748G>A
NM_194248.2:c.5332G>A
NM_194248.2:c.2180A>G
NM_194248.2:c.2151G>A
NM_194248.2:c.1422T>A
NM_194248.2:c.1350C>G
NM_194248.2:c.1194T>A
NM_001287489.1:c.5992T>C
NM_001287489.1:c.5816G>A