NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND Focal segmental glomerulosclerosis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002293982.2
Allele description [Variation Report for NM_000186.4(CFH):c.184G>A (p.Val62Ile)]
NM_000186.4(CFH):c.184G>A (p.Val62Ile)
Condition(s)
- Name:
- Focal segmental glomerulosclerosis (FSGS)
- Synonyms:
- Glomerulosclerosis, focal; Focal sclerosis with hyalinosis
- Identifiers:
- MONDO: MONDO:0100313; MedGen: C0017668; Human Phenotype Ontology: HP:0000097
Assertion and evidence details
Last Updated: Feb 28, 2024