NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter) AND Benign hereditary chorea
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000009543.7
Allele description [Variation Report for NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter)]
NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024