Variant (rsID / SNP)

rs104893977

rs104893977 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEU1. Location: chromosome 6, position 31,828,235. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NEU1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:31828235
Cytoband: 6p21.33
HGVS: NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr)
Allele change: Missense_F260Y

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.