NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys) AND Autosomal dominant polycystic kidney disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001254227.1
Allele description [Variation Report for NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)]
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)
Condition(s)
- Name:
- Autosomal dominant polycystic kidney disease (ADPKD)
- Identifiers:
- MONDO: MONDO:0004691; MedGen: C0085413
Assertion and evidence details
Last Updated: Apr 23, 2022