Variant (rsID / SNP)
rs17148873
rs17148873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,152,439. Clinical significance in the table: Benign.
Reference-table entries
SETXBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:135152439
- Cytoband
- 9q34.13
- HGVS
- NM_015046.7(SETX):c.6935+8T>C
- Allele change
- Silent
Associated conditions / phenotypes
Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.