Gene entry
MPV17
mitochondrial inner membrane protein MPV17
- Chromosome
- 2
- Cytoband
- 2p23.3
- Variants (rsID)
- 10
MPV17 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p23.3). Its official name is “mitochondrial inner membrane protein MPV17”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs35244252Conflicting interpretationssingle nucleotide variantNavajo neurohepatopathy|Mitochondrial DNA depletion syndrome
- rs121909721Pathogenicsingle nucleotide variantNavajo neurohepatopathy
- rs121909723Pathogenicsingle nucleotide variantNavajo neurohepatopathy|Mitochondrial DNA depletion syndrome, hepatocerebral form
- rs267607258Pathogenicsingle nucleotide variantNavajo neurohepatopathy|MPV17-Related Disorders|Charcot-Marie-Tooth disease, axonal, type 2EE
- rs766160589PathogenicDuplicationNavajo neurohepatopathy
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.