Variant (rsID / SNP)
rs2290949
rs2290949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAN. Location: chromosome 16, position 81,413,389. Clinical significance in the table: Benign.
Reference-table entries
GANBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:81413389
- Cytoband
- 16q23.2
- HGVS
- NM_022041.4(GAN):c.*2188T>C
- Allele change
- Silent
Associated conditions / phenotypes
Giant axonal neuropathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.