Variant (rsID / SNP)

rs775982338

rs775982338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA1. Location: chromosome 14, position 94,849,346. Clinical significance in the table: Pathogenic.

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Reference-table entries

SERPINA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 14:94849346
Cytoband: 14q32.13
HGVS: NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)

Associated conditions / phenotypes

PI M(MALTON)|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.