Annotation Detail
Information
- Associated Genes
- RAG2
- Associated Variants
-
RAG2 p.Gly35Ala (p.G35A)
(
ENST00000532616.2,
ENST00000529083.2,
ENST00000311485.8,
ENST00000527033.6 )
RAG2 p.Gly35Ala (p.G35A) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 ) - Associated Disease
- recombinase activating gene 2 deficiency Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Inborn error of immunity
- Source Database
- ClinVar
- Description
- NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND multiple conditions
- ClinVar Allele ID
- 45377
- ClinVar RefSeq Alternation Syntax
- NM_000536.4:c.104G>C
- ClinVar RefSeq Alternation Syntax
- NM_001243786.2:c.104G>C
- ClinVar RefSeq Alternation Syntax
- NM_001243785.2:c.104G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000681571
- ClinVar Disease
- Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
- ClinVar Disease
- Recombinase activating gene 2 deficiency
- ClinVar Disease
- Inborn error of immunity
- Observed Origin Sample
- germline
Drugs