Annotation Detail
Information
- Associated Genes
- RAG2
- Associated Variants
-
RAG2 p.Met110Val (p.M110V)
(
ENST00000527033.6,
ENST00000311485.8,
ENST00000529083.2,
ENST00000532616.2 )
RAG2 p.Met110Val (p.M110V) ( ENST00000311485.8, ENST00000527033.6, ENST00000529083.2, ENST00000532616.2 ) - Associated Disease
- Histiocytic medullary reticulosis
- Source Database
- ClinVar
- Description
- NM_000536.4(RAG2):c.328A>G (p.Met110Val) AND Histiocytic medullary reticulosis
- ClinVar Allele ID
- 978995
- ClinVar RefSeq Alternation Syntax
- NM_000536.4:c.328A>G
- ClinVar RefSeq Alternation Syntax
- NM_001243786.2:c.328A>G
- ClinVar RefSeq Alternation Syntax
- NM_001243785.2:c.328A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-04-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001278474
- ClinVar Disease
- Histiocytic medullary reticulosis
- Observed Origin Sample
- germline
Drugs