Annotation Detail
Information
- Associated Genes
- IL17RA
- Associated Variants
-
IL17RA p.Lys379= (p.K379=)
(
ENST00000319363.11,
ENST00000612619.2 )
IL17RA p.Lys379= (p.K379=) ( ENST00000319363.11, ENST00000612619.2 ) - Associated Disease
- immunodeficiency 51
- Source Database
- ClinVar
- Description
- NM_014339.7(IL17RA):c.1137G>A (p.Lys379=) AND Immunodeficiency 51
- ClinVar Allele ID
- 351025
- ClinVar RefSeq Alternation Syntax
- NM_001289905.2:c.1035G>A
- ClinVar RefSeq Alternation Syntax
- NM_014339.7:c.1137G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001513308
- ClinVar Disease
- Immunodeficiency 51
- Observed Origin Sample
- germline
Drugs