Annotation Detail
Information
- Associated Genes
- IL1RN
- Associated Variants
-
IL1RN p.Ala60= (p.A60=)
(
ENST00000259206.9,
ENST00000354115.6,
ENST00000361779.7,
ENST00000409930.4,
ENST00000696879.1,
ENST00000696881.1 )
IL1RN p.Ala60= (p.A60=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 ) - Associated Disease
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Source Database
- ClinVar
- Description
- NM_173842.3(IL1RN):c.171T>C (p.Ala57=) AND Sterile multifocal osteomyelitis with periostitis and pustulosis
- ClinVar Allele ID
- 282295
- ClinVar RefSeq Alternation Syntax
- NM_173841.3:c.180T>C
- ClinVar RefSeq Alternation Syntax
- NM_000577.5:c.117T>C
- ClinVar RefSeq Alternation Syntax
- NM_173843.3:c.69T>C
- ClinVar RefSeq Alternation Syntax
- NM_001379360.1:c.69T>C
- ClinVar RefSeq Alternation Syntax
- NM_173842.3:c.171T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318914.2:c.69T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000389038
- ClinVar Disease
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Observed Origin Sample
- germline
Drugs