Variant (rsID / SNP)

rs121908282

rs121908282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,028,883. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HGSNATLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:43028883
Cytoband: 8p11.21
HGVS: NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
Allele change: Missense_P283L

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-C|Retinal dystrophy|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.