Variant (rsID / SNP)

rs148632988

rs148632988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGSNAT. Location: chromosome 8, position 43,053,062. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HGSNATBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:43053062
Cytoband: 8p11.21
HGVS: NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
Allele change: Missense_G565R

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-C|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.