Database of Pathogenic Variants
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Gene Detail
Gene Symbol
LOXHD1
Gene:125336
HGNC:26521
Gene Name
lipoxygenase homology PLAT domains 1
Chromosome
18
Cytogenetic Band
q21.1
RefSeq Accession
NM_144612
Associated Diseases
Partial deafness
Associated Variants
NM_001145472.2:c.1324G>A
NM_001145472.2:c.879+1G>A
NM_001145472.2:c.757G>A
NM_001145472.2:c.524G>T
NM_144612:c.2174A>G