NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser) AND Alpha-1-antitrypsin deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000508731.2
Allele description [Variation Report for NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser)]
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser)
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025