Annotation Detail
Information
- Associated Genes
- IRAK1
- Associated Variants
-
IRAK1 p.Ser532Leu (p.S532L)
(
ENST00000369974.6,
ENST00000369980.8,
ENST00000393687.6,
ENST00000429936.6 )
IRAK1 p.Ser532Leu (p.S532L) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001569.4(IRAK1):c.1595C>T (p.Ser532Leu) AND not specified
- ClinVar Allele ID
- 2849108
- ClinVar RefSeq Alternation Syntax
- NM_001569.4:c.1595C>T
- ClinVar RefSeq Alternation Syntax
- NM_001410701.1:c.1618-35C>T
- ClinVar RefSeq Alternation Syntax
- NM_001025242.2:c.1540-35C>T
- ClinVar RefSeq Alternation Syntax
- NM_001025243.2:c.1358C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003488980
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs