Variant (rsID / SNP)
rs747291494
rs747291494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAN. Location: chromosome 16, position 81,390,608. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GANPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:81390608
- Cytoband
- 16q23.2
- HGVS
- NM_022041.4(GAN):c.851+1G>A
- 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.