Variant (rsID / SNP)
rs17580
rs17580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,847,262. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.
Reference-table entries
SERPINA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:94847262
- Cytoband
- 14q32.13
- HGVS
- NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
- Allele change
- Missense_E288V
Associated conditions / phenotypes
PI S|Alpha-1-antitrypsin deficiency|Chronic obstructive pulmonary disease|Alpha-1-antitrypsin deficiency|Cystic fibrosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.