Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg334Gln (p.R334Q)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Arg334Gln (p.R334Q) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 47621
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1001G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032283
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- unknown
Drugs