NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys) AND Malformation of the heart and great vessels
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146755.1
Allele description
NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys)
Condition(s)
- Name:
- Malformation of the heart and great vessels
- Identifiers:
- MedGen: CN221285
Assertion and evidence details
Last Updated: Sep 28, 2017