Annotation Detail
Information
- Associated Genes
- DARS2
- Associated Variants
-
DARS2 p.Leu626Val (p.L626V)
(
ENST00000649689.2,
ENST00000648960.1,
ENST00000649067.1,
ENST00000647645.1,
ENST00000648807.1 )
DARS2 p.Leu626Val (p.L626V) ( ENST00000647645.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 ) - Associated Disease
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Source Database
- ClinVar
- Description
- NM_018122.5(DARS2):c.1876C>G (p.Leu626Val) AND Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- ClinVar Allele ID
- 16097
- ClinVar RefSeq Alternation Syntax
- NM_018122.5:c.1876C>G
- ClinVar RefSeq Alternation Syntax
- NM_001365212.1:c.1723C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001113
- ClinVar Disease
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Observed Origin Sample
- germline
- Pubmed
- 17384640
Drugs