Annotation Detail
Information
- Associated Genes
- MMUT
- Associated Variants
-
MMUT p.Leu494Ter (p.L494*)
(
ENST00000274813.4 )
MMUT p.Leu494Ter (p.L494*) ( ENST00000274813.4 ) - Associated Disease
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Source Database
- ClinVar
- Description
- NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- ClinVar Allele ID
- 544041
- ClinVar RefSeq Alternation Syntax
- NM_000255.4:c.1481T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-03-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000666288
- ClinVar Disease
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Observed Origin Sample
- unknown
Drugs