NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter) AND Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001724752.1
Allele description [Variation Report for NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)]
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023