NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002538130.2
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)]
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024