NM_000116.5(TAFAZZIN):c.646+14C>T AND Endocardial fibroelastosis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001166048.4
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.646+14C>T]
NM_000116.5(TAFAZZIN):c.646+14C>T
Condition(s)
- Name:
- Endocardial fibroelastosis (EFE)
- Identifiers:
- MONDO: MONDO:0009169; MedGen: C0014117; Orphanet: 2022; OMIM: 226000; Human Phenotype Ontology: HP:0001706
-
Homo sapiens Bcl2 modifying factor (BMF), mRNA
Homo sapiens Bcl2 modifying factor (BMF), mRNAgi|21071075|ref|NM_033503.2|Nucleotide
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Last Updated: Sep 29, 2024