Variant (rsID / SNP)
rs188247474
rs188247474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,205,231. Clinical significance in the table: Uncertain significance.
Reference-table entries
SETXUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135205231
- Cytoband
- 9q34.13
- HGVS
- NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)
- Allele change
- Missense_Q585R
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.