Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Lys4Gln (p.K4Q)
(
ENST00000549940.5,
ENST00000299314.12,
ENST00000392919.4,
ENST00000549165.1 )
GNPTAB p.Lys4Gln (p.K4Q) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND multiple conditions
- ClinVar Allele ID
- 17813
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.10A>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000669013
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs