Annotation Detail
Information
- Associated Genes
- AK2
- Associated Variants
-
AK2 p.Lys93Glu (p.K93E)
(
ENST00000672715.1,
ENST00000373449.7,
ENST00000467905.5,
ENST00000673291.1,
ENST00000548033.5,
ENST00000354858.11,
ENST00000487289.1,
ENST00000480134.5 )
AK2 p.Lys93Glu (p.K93E) ( ENST00000354858.11, ENST00000373449.7, ENST00000467905.5, ENST00000480134.5, ENST00000487289.1, ENST00000548033.5, ENST00000672715.1, ENST00000673291.1 ) - Associated Disease
- reticular dysgenesis
- Source Database
- ClinVar
- Description
- NM_001625.4(AK2):c.277A>G (p.Lys93Glu) AND Reticular dysgenesis
- ClinVar Allele ID
- 448089
- ClinVar RefSeq Alternation Syntax
- NM_001199199.3:c.277A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319140.2:c.133A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319142.3:c.151A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319139.3:c.133A>G
- ClinVar RefSeq Alternation Syntax
- NM_013411.5:c.277A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319143.2:c.277A>G
- ClinVar RefSeq Alternation Syntax
- NM_001625.4:c.277A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319141.3:c.277A>G
- ClinVar RefSeq Alternation Syntax
- NR_134976.3:n.332A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-10-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000527666
- ClinVar Disease
- Reticular dysgenesis
- Observed Origin Sample
- germline
Drugs