NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter) AND X-linked Alport syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309804.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)]
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023