NM_000295.5(SERPINA1):c.681C>T (p.Thr227=) AND Alpha-1-antitrypsin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001453706.6
Allele description [Variation Report for NM_000295.5(SERPINA1):c.681C>T (p.Thr227=)]
NM_000295.5(SERPINA1):c.681C>T (p.Thr227=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024