Annotation Detail
Information
- Associated Genes
- RAG1
- Associated Variants
-
RAG1 p.Lys820Arg (p.K820R)
(
ENST00000299440.6,
ENST00000697713.1,
ENST00000697714.1,
ENST00000697715.1 )
RAG1 p.Lys820Arg (p.K820R) ( ENST00000299440.6, ENST00000697713.1, ENST00000697714.1, ENST00000697715.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) AND not provided
- ClinVar Allele ID
- 254149
- ClinVar RefSeq Alternation Syntax
- NM_001377278.1:c.2459A>G
- ClinVar RefSeq Alternation Syntax
- NM_000448.3:c.2459A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377277.1:c.2459A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377279.1:c.2459A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377280.1:c.2459A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001636747
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs