Annotation Detail
Information
- Associated Genes
- NUS1
- Associated Variants
-
NUS1 p.Leu210Ser (p.L210S)
(
ENST00000368494.4 )
NUS1 p.Leu210Ser (p.L210S) ( ENST00000368494.4 ) - Associated Disease
- Congenital disorder of glycosylation, type IAA
- Source Database
- ClinVar
- Description
- NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) AND Congenital disorder of glycosylation, type IAA
- ClinVar Allele ID
- 1444446
- ClinVar RefSeq Alternation Syntax
- NM_138459.5:c.629T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001949877
- ClinVar Disease
- Congenital disorder of glycosylation, type IAA
- Observed Origin Sample
- germline
Drugs