Variant (rsID / SNP)
rs199886234
rs199886234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,325,090. 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
- 19:13325090
- Cytoband
- 19p13.13
- HGVS
- NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
- Allele change
- Missense_R1967Q
Associated conditions / phenotypes
History of neurodevelopmental disorder|Episodic ataxia type 2|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.