Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Leu1054Val (p.L1054V)
(
ENST00000299314.12 )
GNPTAB p.Leu1054Val (p.L1054V) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3160C>G (p.Leu1054Val) AND Mucolipidosis type II
- ClinVar Allele ID
- 47669
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3160C>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032331
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- unknown
Drugs