Variant (rsID / SNP)

rs61743823

rs61743823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNS. Location: chromosome 12, position 65,153,036. Clinical significance in the table: Benign.

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Reference-table entries

GNSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:65153036
Cytoband: 12q14.3
HGVS: NM_002076.4(GNS):c.21C>G (p.Ala7=)
Allele change: Synonymous_A7A

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-D|Sanfilippo syndrome

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.