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Variant (rsID / SNP)

rs41273880

ELOVL5

rs41273880 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELOVL5. Location: chromosome 6, position 53,135,449. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ELOVL5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:53135449
Cytoband
6p12.1
HGVS
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)
Allele change
Missense_Y260C

Associated conditions / phenotypes

Spinocerebellar ataxia type 38

Public references

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