Variant (rsID / SNP)

rs104894595

rs104894595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGLU. Location: chromosome 17, position 40,695,586. Clinical significance in the table: Pathogenic.

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Reference-table entries

NAGLUPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:40695586
Cytoband: 17q21.2
HGVS: NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
Allele change: Missense_P521L

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-III-B|Mucopolysaccharidosis|Charcot-Marie-Tooth disease axonal type 2V|Mucopolysaccharidosis, MPS-III-B

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.