Database of Pathogenic Variants
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Gene Detail
Gene Symbol
COCH
Gene:1690
HGNC:2180
Gene Name
cochlin
Chromosome
14
Cytogenetic Band
q12
RefSeq Accession
NM_004086
Associated Diseases
Partial deafness
Associated Variants
NM_004086:c.263G>A
NM_004086:c.355G>A
NM_004086:c.1115T>C
NM_004086:c.1624T>C