Variant (rsID / SNP)

rs137852897

rs137852897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,147,187. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNPTABPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:102147187
Cytoband: 12q23.2
HGVS: NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
Allele change: Nonsense_R1189X

Associated conditions / phenotypes

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

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.