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Variant (rsID / SNP)

rs138694766

GNE

rs138694766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,234,056. 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
9:36234056
Cytoband
9p13.3
HGVS
NM_005476.7(GNE):c.843C>T (p.His281=)
Allele change
Synonymous_H171H

Associated conditions / phenotypes

Sialuria|GNE myopathy|GNE myopathy

Public references

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