Variant (rsID / SNP)
rs398124544
rs398124544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,046,739. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
HGSNATPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:43046739
- Cytoband
- 8p11.21
- HGVS
- NM_152419.3(HGSNAT):c.1250+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Retinal dystrophy|Sanfilippo syndrome|Retinitis pigmentosa 73
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.