Variant (rsID / SNP)

rs145361930

rs145361930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,218,241. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GNEBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:36218241
Cytoband: 9p13.3
HGVS: NM_005476.7(GNE):c.1872G>A (p.Ala624=)
Allele change: Synonymous_A514A

Associated conditions / phenotypes

GNE myopathy|Sialuria|Inclusion Body Myopathy, Recessive|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.