Variant (rsID / SNP)
rs116333061
rs116333061 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,205,028. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SETXBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135205028
- Cytoband
- 9q34.13
- HGVS
- NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
- Allele change
- Missense_Q653K
Associated conditions / phenotypes
Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.