Variant (rsID / SNP)

rs281864969

rs281864969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,164,297. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GNPTABPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:102164297
Cytoband: 12q23.2
HGVS: NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
Allele change: Nonsense_R334X

Associated conditions / phenotypes

Pseudo-Hurler polydystrophy|Mucolipidosis type II|Pseudo-Hurler polydystrophy|Mucolipidosis type II

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.