Variant (rsID / SNP)
rs794727411
rs794727411 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,372,340. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:13372340
- Cytoband
- 19p13.13
- HGVS
- NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
- Allele change
- Missense_V1393M
Associated conditions / phenotypes
Episodic ataxia type 2|Migraine, familial hemiplegic, 1|Developmental and epileptic encephalopathy, 42|Inborn genetic diseases|Spinocerebellar ataxia type 6|Migraine|Migraine, familial hemiplegic, 1|Episodic ataxia type 2|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2|Spinocerebellar ataxia type 6|Migraine, familial hemiplegic, 1|Developmental and epileptic encephalopathy, 52
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.