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This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and its
clinical consequences. Orphanet J Rare Dis. 2008 Jun 19;3:16. Review. PubMed
PMID: 18565211; PubMed Central PMCID: PMC2441617.
hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr14:94847262