Variant (rsID / SNP)
rs34002892
rs34002892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,147,248. Clinical significance in the table: Pathogenic.
Reference-table entries
GNPTABPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 12:102147248
- Cytoband
- 12q23.2
- HGVS
- NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
Associated conditions / phenotypes
Mucolipidosis type II|Pseudo-Hurler polydystrophy|GNPTAB-Related Disorders|Inborn genetic diseases|Pseudo-Hurler polydystrophy|Mucolipidosis type II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.