Variant: rs1555119216

present in Gene: DNM1L present in Chromosome: 12 Position on Chromosome: 32713327 Alleles of this Variant: C/A

rs1555119216 in DNM1L gene and OPTIC ATROPHY 5 (disorder) PMID 28969390 2017 Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.