Variant (rsID / SNP)

rs199422209

rs199422209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,844,865. 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: 14:94844865
Cytoband: 14q32.13
HGVS: NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
Allele change: Missense_P393L

Associated conditions / phenotypes

PI M(HEERLEN)|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.