Variant (rsID / SNP)
rs1043313
rs1043313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNE. Location: chromosome 9, position 36,214,971. Clinical significance in the table: Benign.
Reference-table entries
GNEBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:36214971
- Cytoband
- 9p13.3
- HGVS
- NM_005476.7(GNE):c.*2391C>T
- Allele change
- Silent
Associated conditions / phenotypes
Sialuria|Inclusion Body Myopathy, Recessive|GNE myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.