Variant (rsID / SNP)

rs34712643

rs34712643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEU1. Location: chromosome 6, position 31,829,865. Clinical significance in the table: Benign.

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Reference-table entries

NEU1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:31829865
Cytoband: 6p21.33
HGVS: NM_000434.4(NEU1):c.263G>C (p.Gly88Ala)
Allele change: Missense_G88A

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.