Variant (rsID / SNP)
rs281875375
rs281875375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZMPSTE24. Location: chromosome 1, position 40,758,173. Clinical significance in the table: Pathogenic.
Reference-table entries
ZMPSTE24Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:40758173
- Cytoband
- 1p34.2
- HGVS
- NM_005857.5(ZMPSTE24):c.1263dup (p.Ala422fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.