Variant (rsID / SNP)

rs28940290

rs28940290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,156,870. Clinical significance in the table: Pathogenic.

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Reference-table entries

SETXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135156870
Cytoband: 9q34.13
HGVS: NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)
Allele change: Missense_P2213L

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.