Annotation Detail
Information
- Associated Genes
- DARS2
- Associated Variants
-
DARS2 p.Arg179His (p.R179H)
(
ENST00000649689.2,
ENST00000648960.1,
ENST00000649067.1,
ENST00000647645.1,
ENST00000648458.1,
ENST00000648807.1 )
DARS2 p.Arg179His (p.R179H) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_018122.5(DARS2):c.536G>A (p.Arg179His) AND not provided
- ClinVar Allele ID
- 16103
- ClinVar RefSeq Alternation Syntax
- NM_001365212.1:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_018122.5:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365213.2:c.536G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-03-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001268501
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs