Variant (rsID / SNP)

rs1209266607

rs1209266607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,249,315. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNEPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:36249315
Cytoband: 9p13.3
HGVS: NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
Allele change: Silent

Associated conditions / phenotypes

GNE myopathy|Sialuria|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.