NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) AND Polycystic kidney disease, adult type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506780.1
Allele description [Variation Report for NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)]
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala)
Condition(s)
- Name:
- Polycystic kidney disease, adult type (PKD1)
- Synonyms:
- Polycystic Kidney, Autosomal Dominant; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic kidney disease 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008263; MedGen: C3149841; OMIM: 173900
Assertion and evidence details
Last Updated: Dec 24, 2023