Variant (rsID / SNP)
rs1303
rs1303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,844,843. Clinical significance in the table: Benign.
Reference-table entries
SERPINA1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:94844843
- Cytoband
- 14q32.13
- HGVS
- NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
- Allele change
- Missense_E400D
Associated conditions / phenotypes
PI M3|Alpha-1-antitrypsin deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.