Variant (rsID / SNP)
rs16024
rs16024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,409,407. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CACNA1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:13409407
- Cytoband
- 19p13.13
- HGVS
- NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
- Allele change
- Missense_E1015K
Associated conditions / phenotypes
Inborn genetic diseases|Developmental and epileptic encephalopathy, 42|History of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.