NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter) AND Timothy syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003387659.1
Allele description [Variation Report for NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)]
NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024