Variant (rsID / SNP)
rs28929470
rs28929470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,847,386. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SERPINA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:94847386
- Cytoband
- 14q32.13
- HGVS
- NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
- Allele change
- Missense_R247C
Associated conditions / phenotypes
PI F|Alpha-1-antitrypsin deficiency|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.