NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) AND Tetralogy of Fallot
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 15, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000009576.5
Allele description [Variation Report for NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)]
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
Condition(s)
- Name:
- Tetralogy of Fallot (TOF)
- Synonyms:
- Fallot tetralogy
- Identifiers:
- MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636
Assertion and evidence details
Last Updated: Sep 29, 2024