Variant (rsID / SNP)
rs28929474
rs28929474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,844,947. Clinical significance in the table: Pathogenic; risk factor.
Reference-table entries
SERPINA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:94844947
- Cytoband
- 14q32.13
- HGVS
- NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
- Allele change
- Missense_E366K
Associated conditions / phenotypes
PI Z|PI Z(AUGSBURG)|PI Z(TUN)|Alpha-1-antitrypsin deficiency|FRAXE|Inborn genetic diseases|Chronic obstructive pulmonary disease|Alpha-1-antitrypsin deficiency|Chronic obstructive pulmonary disease|COPD, severe early onset|Alpha-1-antitrypsin deficiency|See cases|Neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.