Variant (rsID / SNP)
rs41291734
rs41291734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D2. Location: chromosome 3, position 50,513,613. Clinical significance in the table: Benign.
Reference-table entries
CACNA2D2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:50513613
- Cytoband
- 3p21.31
- HGVS
- NM_006030.4(CACNA2D2):c.224G>A (p.Arg75Gln)
- Allele change
- Missense_R75Q
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.