Variant (rsID / SNP)

rs864622051

rs864622051 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,849,037. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SERPINA1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:94849037
Cytoband: 14q32.13
HGVS: NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)
Allele change: Nonsense_Q180X

Associated conditions / phenotypes

Alpha-1-antitrypsin deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.