Variant (rsID / SNP)

rs121908632

rs121908632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,219,937. 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: 9:36219937
Cytoband: 9p13.3
HGVS: NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
Allele change: Missense_V462L

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.