Annotation Detail
Information
- Associated Genes
- DARS2
- Associated Variants
-
DARS2 p.Ser45Gly (p.S45G)
(
ENST00000649689.2,
ENST00000647645.1,
ENST00000648458.1,
ENST00000648807.1,
ENST00000648960.1,
ENST00000649067.1 )
DARS2 p.Cys152Phe (p.C152F) ( ENST00000649689.2, ENST00000648458.1, ENST00000648807.1, ENST00000647645.1, ENST00000649067.1, ENST00000648960.1 )
DARS2 c.492+2T>C ( ENST00000649689.2, ENST00000648458.1, ENST00000648807.1, ENST00000647645.1, ENST00000649067.1, ENST00000648960.1 )
DARS2 c.492+2T>G ( ENST00000649067.1, ENST00000648960.1, ENST00000648458.1, ENST00000648807.1, ENST00000647645.1, ENST00000649689.2 )
DARS2 p.Arg179His (p.R179H) ( ENST00000649689.2, ENST00000648960.1, ENST00000649067.1, ENST00000647645.1, ENST00000648458.1, ENST00000648807.1 )
DARS2 p.Arg263Ter (p.R263*) ( ENST00000649689.2, ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1 )
DARS2 p.Arg263Gln (p.R263Q) ( ENST00000649689.2, ENST00000648458.1, ENST00000648807.1, ENST00000647645.1, ENST00000649067.1, ENST00000648960.1 )
DARS2 p.Arg263Pro (p.R263P) ( ENST00000648960.1, ENST00000649067.1, ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000649689.2 )
DARS2 p.Glu425Ter (p.E425*) ( ENST00000649689.2, ENST00000649067.1, ENST00000648960.1, ENST00000648458.1, ENST00000648807.1, ENST00000647645.1 )
DARS2 p.Arg609Trp (p.R609W) ( ENST00000649689.2, ENST00000649067.1, ENST00000648960.1, ENST00000648807.1, ENST00000647645.1 )
DARS2 p.Leu613Phe (p.L613F) ( ENST00000649689.2, ENST00000649067.1, ENST00000648960.1, ENST00000648807.1, ENST00000647645.1 )
DARS2 p.Leu626Val (p.L626V) ( ENST00000649689.2, ENST00000648960.1, ENST00000649067.1, ENST00000647645.1, ENST00000648807.1 )
DARS2 p.Leu626Gln (p.L626Q) ( ENST00000648807.1, ENST00000647645.1, ENST00000649067.1, ENST00000648960.1, ENST00000649689.2 )
DARS2 p.Ser45Gly (p.S45G) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Cys152Phe (p.C152F) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 c.492+2T>C ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 c.492+2T>G ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Arg179His (p.R179H) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Arg263Ter (p.R263*) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Arg263Gln (p.R263Q) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Arg263Pro (p.R263P) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Glu425Ter (p.E425*) ( ENST00000647645.1, ENST00000648458.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Arg609Trp (p.R609W) ( ENST00000647645.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Leu613Phe (p.L613F) ( ENST00000647645.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Leu626Val (p.L626V) ( ENST00000647645.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 p.Leu626Gln (p.L626Q) ( ENST00000647645.1, ENST00000648807.1, ENST00000648960.1, ENST00000649067.1, ENST00000649689.2 )
DARS2 c.228-22_228-21insC
DARS2 c.228-22_228-21insCC
DARS2 c.228-20_228-19insTT
DARS2 c.228-22_228-21insC
DARS2 c.228-22_228-21insCC
DARS2 c.228-20_228-19insTT - Associated Disease
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- NA
Drugs