Variant (rsID / SNP)

rs748949603

rs748949603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,219,891. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GNEPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:36219891
Cytoband: 9p13.3
HGVS: NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
Allele change: Missense_I477T

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.