Variant (rsID / SNP)

rs28940583

rs28940583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEU1. Location: chromosome 6, position 31,828,365. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NEU1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:31828365
Cytoband: 6p21.33
HGVS: NM_000434.4(NEU1):c.649G>A (p.Val217Met)
Allele change: Missense_V217M

Associated conditions / phenotypes

Sialidosis type 1|Sialidosis

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.