Annotation Detail
Information
- Associated Genes
- DOK2
- Associated Variants
-
DOK2 p.Ser394Ala (p.S394A)
(
ENST00000276420.9 )
DOK2 p.Ser394Ala (p.S394A) ( ENST00000276420.9 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003974.4(DOK2):c.1180T>G (p.Ser394Ala) AND not provided
- ClinVar Allele ID
- 700518
- ClinVar RefSeq Alternation Syntax
- NM_001317800.2:c.718T>G
- ClinVar RefSeq Alternation Syntax
- NM_003974.4:c.1180T>G
- ClinVar RefSeq Alternation Syntax
- NM_201349.3:c.718T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-01-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000950735
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs