Variant (rsID / SNP)

rs138790252

rs138790252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNS. Location: chromosome 12, position 65,113,929. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GNSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:65113929
Cytoband: 12q14.3
HGVS: NM_002076.4(GNS):c.1453C>G (p.Pro485Ala)
Allele change: Missense_P485A

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-D

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.