NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) AND Nephronophthisis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000475008.6
Allele description [Variation Report for NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)]
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)
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: Feb 20, 2024