Gene entry
DNM1L
dynamin 1L
- Chromosome
- 12
- Cytoband
- 12p11.21
- Variants (rsID)
- 9
DNM1L is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p11.21). Its official name is “dynamin 1L”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs150170255Conflicting interpretationssingle nucleotide variant
- rs121908531Pathogenicsingle nucleotide variantEncephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- rs863223953Pathogenicsingle nucleotide variantEncephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|Inborn genetic diseases|Optic atrophy 5|Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.