Annotation Detail
Information
- Associated Genes
- RAG2
- Associated Variants
-
RAG2 p.Glu437Lys (p.E437K)
(
ENST00000311485.8,
ENST00000527033.6,
ENST00000532616.2,
ENST00000529083.2 )
RAG2 p.Glu437Lys (p.E437K) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 ) - Associated Disease
- Combined immunodeficiency with skin granulomas
- Source Database
- ClinVar
- Description
- NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND Combined immunodeficiency with skin granulomas
- ClinVar Allele ID
- 45379
- ClinVar RefSeq Alternation Syntax
- NM_000536.4:c.1309G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243786.2:c.1309G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243785.2:c.1309G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-02-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003473151
- ClinVar Disease
- Combined immunodeficiency with skin granulomas
- Observed Origin Sample
- unknown
Drugs