Variant (rsID / SNP)

rs104893981

rs104893981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEU1. Location: chromosome 6, position 31,827,947. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NEU1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:31827947
Cytoband: 6p21.33
HGVS: NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
Allele change: Missense_A298V

Associated conditions / phenotypes

Sialidosis type 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.