NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) AND Alport syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001195691.1
Allele description [Variation Report for NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)]
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024