Variant (rsID / SNP)
rs6491066
rs6491066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8A2. Location: chromosome 13, position 26,148,966. Clinical significance in the table: Benign.
Reference-table entries
ATP8A2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:26148966
- Cytoband
- 13q12.13
- HGVS
- NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=)
- Allele change
- Synonymous_F561F
Associated conditions / phenotypes
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.