Annotation Detail
Information
- Associated Genes
- AK2
- Associated Variants
-
AK2 c.499-2_499-1insAC
(
ENST00000354858.11,
ENST00000480134.5,
ENST00000672715.1,
ENST00000467905.5,
ENST00000373449.7,
ENST00000548033.5 )
AK2 c.499-2_499-1insAC ( ENST00000354858.11, ENST00000373449.7, ENST00000467905.5, ENST00000480134.5, ENST00000548033.5, ENST00000672715.1 ) - Associated Disease
- Severe combined immunodeficiency disease
- Source Database
- ClinVar
- Description
- NM_001625.4(AK2):c.498_499dup (p.Ile167fs) AND Severe combined immunodeficiency disease
- ClinVar Allele ID
- 1330891
- ClinVar RefSeq Alternation Syntax
- NM_001319140.2:c.354_355dup
- ClinVar RefSeq Alternation Syntax
- NM_001319142.3:c.372_373dup
- ClinVar RefSeq Alternation Syntax
- NM_001319139.3:c.354_355dup
- ClinVar RefSeq Alternation Syntax
- NM_013411.5:c.498_499dup
- ClinVar RefSeq Alternation Syntax
- NM_001319141.3:c.498_499dup
- ClinVar RefSeq Alternation Syntax
- NM_001625.4:c.498_499dup
- ClinVar RefSeq Alternation Syntax
- NM_001319143.2:c.*1_*2dup
- ClinVar RefSeq Alternation Syntax
- NR_134976.3:n.458_459dup
- ClinVar RefSeq Alternation Syntax
- NM_001199199.3:c.474_475dup
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-01-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001825068
- ClinVar Disease
- Severe combined immunodeficiency disease
- Observed Origin Sample
- germline
Drugs