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Variant (rsID / SNP)

rs200812140

GNE

rs200812140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,218,205. 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
9:36218205
Cytoband
9p13.3
HGVS
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
Allele change
Synonymous_A526A

Associated conditions / phenotypes

Sialuria|GNE myopathy|Sialuria|GNE myopathy

Public references

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