NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile) AND Autosomal dominant polycystic kidney disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001967316.3
Allele description [Variation Report for NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile)]
NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile)
Condition(s)
- Name:
- Autosomal dominant polycystic kidney disease (ADPKD)
- Identifiers:
- MONDO: MONDO:0004691; MedGen: C0085413
Assertion and evidence details
Last Updated: May 1, 2024