Annotation Detail
Information
- Associated Genes
- RAG2
- Associated Variants
-
RAG2 p.Arg73Cys (p.R73C)
(
ENST00000311485.8,
ENST00000527033.6,
ENST00000532616.2,
ENST00000529083.2 )
RAG2 p.Arg73Cys (p.R73C) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 ) - Associated Disease
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Combined immunodeficiency with skin granulomas
- Source Database
- ClinVar
- Description
- NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) AND multiple conditions
- ClinVar Allele ID
- 45380
- ClinVar RefSeq Alternation Syntax
- NM_001243785.2:c.217C>T
- ClinVar RefSeq Alternation Syntax
- NM_000536.4:c.217C>T
- ClinVar RefSeq Alternation Syntax
- NM_001243786.2:c.217C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001059752
- ClinVar Disease
- Combined immunodeficiency with skin granulomas
- ClinVar Disease
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- Observed Origin Sample
- germline
Drugs