Variant (rsID / SNP)

rs104893983

rs104893983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEU1. Location: chromosome 6, position 31,828,287. Clinical significance in the table: Pathogenic.

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Reference-table entries

NEU1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:31828287
Cytoband: 6p21.33
HGVS: NM_000434.4(NEU1):c.727G>A (p.Gly243Arg)
Allele change: Missense_G243R

Associated conditions / phenotypes

Sialidosis type 1

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.