NM_004646.4(NPHS1):c.*751C>T AND Congenital nephrotic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001125451.4
Allele description [Variation Report for NM_004646.4(NPHS1):c.*751C>T]
NM_004646.4(NPHS1):c.*751C>T
Condition(s)
- Name:
- Congenital nephrotic syndrome
- Synonyms:
- Nephrosis, congenital; Familial nephrotic syndrome
- Identifiers:
- MONDO: MONDO:0002350; MeSH: C535761; MedGen: C3501848; OMIM: PS256300; Human Phenotype Ontology: HP:0008677
Assertion and evidence details
Last Updated: Dec 24, 2023