Variant (rsID / SNP)

rs201216576

rs201216576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,217,418. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GNEUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:36217418
Cytoband: 9p13.3
HGVS: NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)
Allele change: Missense_A595T

Associated conditions / phenotypes

Sialuria|GNE myopathy|GNE myopathy

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.