NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) AND Developmental and epileptic encephalopathy, 42
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 20, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253610.1
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs)]
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023