Variant (rsID / SNP)
rs121908220
rs121908220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,346,499. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CACNA1APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:13346499
- Cytoband
- 19p13.13
- HGVS
- NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)
- Allele change
- Missense_R1667W
Associated conditions / phenotypes
Migraine, familial hemiplegic, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.