NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) AND Alport syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835097.1
Allele description [Variation Report for NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)]
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024