Variant (rsID / SNP)

rs104893985

rs104893985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEU1. Location: chromosome 6, position 31,829,889. 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: 6:31829889
Cytoband: 6p21.33
HGVS: NM_000434.4(NEU1):c.239C>T (p.Pro80Leu)
Allele change: Missense_P80L

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.