Variant (rsID / SNP)

rs121434379

rs121434379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,172,296. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SETXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135172296
Cytoband: 9q34.13
HGVS: NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
Allele change: Missense_L1976R

Associated conditions / phenotypes

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.