NM_153240.5(NPHP3):c.519+13C>T AND Nephronophthisis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003587112.1
Allele description
NM_153240.5(NPHP3):c.519+13C>T
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
polyductin isoform 2 [Homo sapiens]
polyductin isoform 2 [Homo sapiens]gi|25777667|ref|NP_733842.1|Protein
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Last Updated: Feb 20, 2024