NM_000295.5(SERPINA1):c.351_352del (p.His117fs) AND Alpha-1-antitrypsin deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003472652.1
Allele description [Variation Report for NM_000295.5(SERPINA1):c.351_352del (p.His117fs)]
NM_000295.5(SERPINA1):c.351_352del (p.His117fs)
Condition(s)
-
LOC127889213 [Homo sapiens]
LOC127889213 [Homo sapiens]Gene ID:127889213Gene
-
SRA Links for BioSample (Select 10830174) (1)
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Last Updated: Dec 30, 2023