Variant (rsID / SNP)
rs2248069
rs2248069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,445,208. Clinical significance in the table: Benign.
Reference-table entries
CACNA1ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:13445208
- Cytoband
- 19p13.13
- HGVS
- NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
- Allele change
- Synonymous_E394E
Associated conditions / phenotypes
History of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2|Migraine, familial hemiplegic, 1|Spinocerebellar ataxia type 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.