Variant (rsID / SNP)

rs139425890

rs139425890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,246,117. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GNEPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:36246117
Cytoband: 9p13.3
HGVS: NM_005476.7(GNE):c.527A>T (p.Asp176Val)
Allele change: Missense_D117V

Associated conditions / phenotypes

GNE myopathy|GNE myopathy|Sialuria

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.