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Gene entry

SERPINA1

serpin family A member 1

Chromosome
14
Cytoband
14q32.13
Variants (rsID)
20

SERPINA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q32.13). Its official name is “serpin family A member 1”. The reference table lists 20 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs1303Benignsingle nucleotide variantPI M3|Alpha-1-antitrypsin deficiency
  • rs6647Benignsingle nucleotide variantPI, M1A|PI M1-ALA213|Alpha-1-antitrypsin deficiency
  • rs141620200Conflicting interpretationssingle nucleotide variantAlpha-1-antitrypsin deficiency
  • rs17580Conflicting interpretationssingle nucleotide variantPI S|Alpha-1-antitrypsin deficiency|Chronic obstructive pulmonary disease|Alpha-1-antitrypsin deficiency|Cystic fibrosis
  • rs28929470Conflicting interpretationssingle nucleotide variantPI F|Alpha-1-antitrypsin deficiency|Inborn genetic diseases
  • rs61761869Conflicting interpretationssingle nucleotide variantAlpha-1-antitrypsin deficiency
  • rs121912714Pathogenicsingle nucleotide variantPI NULL(CARDIFF)|PI P(LOWELL)|PI Q0(CARDIFF)|PI P(DUARTE)|Alpha-1-antitrypsin deficiency
  • rs199422209Pathogenicsingle nucleotide variantPI M(HEERLEN)|Alpha-1-antitrypsin deficiency
  • rs199422211Pathogenicsingle nucleotide variantPI NULL(BELLINGHAM)|PI Q0(BELLINGHAM)|Alpha-1-antitrypsin deficiency
  • rs28929474Pathogenicsingle nucleotide variantPI 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
  • rs28931570Pathogenicsingle nucleotide variantPI I|Alpha-1-antitrypsin deficiency
  • rs55819880Pathogenicsingle nucleotide variantPI S(IIYAMA)|Alpha-1-antitrypsin deficiency
  • rs775982338PathogenicMicrosatellitePI M(MALTON)|Alpha-1-antitrypsin deficiency
  • rs864622051Pathogenicsingle nucleotide variantAlpha-1-antitrypsin deficiency
  • rs199422213Uncertain significancesingle nucleotide variantPI Z(BRISTOL)|Alpha-1-antitrypsin deficiency

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.