NM_016341.4(PLCE1):c.513G>A (p.Val171=) AND Focal segmental glomerulosclerosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002294189.2
Allele description [Variation Report for NM_016341.4(PLCE1):c.513G>A (p.Val171=)]
NM_016341.4(PLCE1):c.513G>A (p.Val171=)
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: Sep 1, 2024