Variant (rsID / SNP)
rs112029032
rs112029032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,054,647. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HGSNATConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:43054647
- Cytoband
- 8p11.21
- HGVS
- NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
- Allele change
- Missense_A615T
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Retinal dystrophy|Retinitis pigmentosa|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.