Variant (rsID / SNP)
rs104894592
rs104894592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGLU. Location: chromosome 17, position 40,693,092. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NAGLUPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:40693092
- Cytoband
- 17q21.2
- HGVS
- NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
- Allele change
- Nonsense_R297X
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-B|Mucopolysaccharidosis|Charcot-Marie-Tooth disease axonal type 2V|Mucopolysaccharidosis, MPS-III-B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.