Variant (rsID / SNP)
rs281864964
rs281864964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,173,951. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GNPTABPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 12:102173951
- Cytoband
- 12q23.2
- HGVS
- NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)
Associated conditions / phenotypes
Mucolipidosis type II|Mucolipidosis|Mucolipidosis type II|Pseudo-Hurler polydystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.