hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
MONDO:0015801Mondo
Findings
No curated finding names hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SERPINA1HGNC:8941
- Supportive · Orphanet · Autosomal dominant · 2021