NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu) AND Developmental and epileptic encephalopathy, 42
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002280918.1
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)]
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)
Condition(s)
-
GCK [Ahaetulla prasina]
GCK [Ahaetulla prasina]Gene ID:131203815Gene
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Last Updated: Aug 5, 2023