NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu) AND Kidney disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002294530.2
Allele description [Variation Report for NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)]
NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)
Condition(s)
- Name:
- Kidney disorder
- Synonyms:
- Nephropathy; Kidney disease; Kidney Diseases
- Identifiers:
- MONDO: MONDO:0005240; MedGen: C0022658; Human Phenotype Ontology: HP:0000112
Assertion and evidence details
Last Updated: Mar 4, 2023