NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter) AND X-linked Alport syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002308163.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)]
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023