Variant (rsID / SNP)
rs766160589
rs766160589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPV17. Location: chromosome 2, position 27,535,451. Clinical significance in the table: Pathogenic.
Reference-table entries
MPV17Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 2:27535451
- Cytoband
- 2p23.3
- HGVS
- NM_002437.5(MPV17):c.280-1dup
Associated conditions / phenotypes
Navajo neurohepatopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.