Annotation Detail
Information
- Associated Genes
- IL7R
- Associated Variants
-
IL7R p.Val138Ile (p.V138I)
(
ENST00000303115.8,
ENST00000506850.5 )
IL7R p.Val138Ile (p.V138I) ( ENST00000303115.8, ENST00000506850.5 ) - Associated Disease
- Immunodeficiency 104
- Source Database
- ClinVar
- Description
- NM_002185.5(IL7R):c.412G>A (p.Val138Ile) AND Immunodeficiency 104
- ClinVar Allele ID
- 29879
- ClinVar RefSeq Alternation Syntax
- NR_120485.3:n.499G>A
- ClinVar RefSeq Alternation Syntax
- NM_002185.5:c.412G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-23
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015965
- ClinVar Disease
- Immunodeficiency 104
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9843216
- Pubmed
- 10899029
Drugs