Annotation Detail
Information
- Associated Genes
- DARS2
- Associated Variants
-
DARS2 p.Cys152Phe (p.C152F)
(
ENST00000649689.2,
ENST00000648458.1,
ENST00000648807.1,
ENST00000647645.1,
ENST00000649067.1,
ENST00000648960.1 )
DARS2 p.Cys152Phe (p.C152F) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 ) - Associated Disease
- DARS2-related disorder
- Source Database
- ClinVar
- Description
- NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) AND DARS2-related disorder
- ClinVar Allele ID
- 16100
- ClinVar RefSeq Alternation Syntax
- NM_001365213.2:c.455G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365212.1:c.455G>T
- ClinVar RefSeq Alternation Syntax
- NM_018122.5:c.455G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003934791
- ClinVar Disease
- DARS2-related disorder
- Observed Origin Sample
- germline
Drugs