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Variant (rsID / SNP)

rs121908627

GNE

rs121908627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,217,445. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GNEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:36217445
Cytoband
9p13.3
HGVS
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
Allele change
Missense_V586M

Associated conditions / phenotypes

GNE myopathy|GNE myopathy|Sialuria|Sialuria

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.