NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) AND Nephronophthisis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001083406.15
Allele description [Variation Report for NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)]
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
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: May 7, 2024