NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) AND Endocardial fibroelastosis
- Germline classification:
- Likely benign (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:
- RCV001168186.4
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)]
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
Condition(s)
- Name:
- Endocardial fibroelastosis (EFE)
- Identifiers:
- MONDO: MONDO:0009169; MedGen: C0014117; Orphanet: 2022; OMIM: 226000; Human Phenotype Ontology: HP:0001706
Assertion and evidence details
Last Updated: Sep 29, 2024