NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) AND Nephronophthisis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001059818.8
Allele description [Variation Report for NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)]
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
Assertion and evidence details
Last Updated: Sep 29, 2024