Variant (rsID / SNP)
rs16019
rs16019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,411,451. Clinical significance in the table: Benign.
Reference-table entries
CACNA1ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:13411451
- Cytoband
- 19p13.13
- HGVS
- NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
- Allele change
- Missense_E732A
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.