Annotation Detail
Information
- Associated Genes
- DGUOK
- Associated Variants
-
DGUOK c.143-19C>T
(
ENST00000264093.9,
ENST00000348222.3,
ENST00000629438.2 )
DGUOK c.143-19C>T ( ENST00000264093.9, ENST00000348222.3, ENST00000629438.2 ) - Associated Disease
- DGUOK-related disorder
- Source Database
- ClinVar
- Description
- NM_080916.3(DGUOK):c.143-19C>T AND DGUOK-related disorder
- ClinVar Allele ID
- 3189286
- ClinVar RefSeq Alternation Syntax
- NM_001318861.2:c.-37+6208C>T
- ClinVar RefSeq Alternation Syntax
- NM_080916.3:c.143-19C>T
- ClinVar RefSeq Alternation Syntax
- NM_001318859.2:c.143-19C>T
- ClinVar RefSeq Alternation Syntax
- NM_001318860.2:c.-36-7828C>T
- ClinVar RefSeq Alternation Syntax
- NM_001318863.2:c.-36-7828C>T
- ClinVar RefSeq Alternation Syntax
- NM_001318862.2:c.-37+6208C>T
- ClinVar RefSeq Alternation Syntax
- NM_080918.3:c.143-19C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-02-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003896520
- ClinVar Disease
- DGUOK-related disorder
- Observed Origin Sample
- germline
Drugs