Annotation Detail

Information
Associated Genes
IL1RN
Associated Variants
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_173842.3(IL1RN):c.390T>C (p.Ser130=) AND not provided
ClinVar Allele ID
283875
ClinVar RefSeq Alternation Syntax
NM_173842.3:c.390T>C
ClinVar RefSeq Alternation Syntax
NM_001318914.2:c.288T>C
ClinVar RefSeq Alternation Syntax
NM_001379360.1:c.288T>C
ClinVar RefSeq Alternation Syntax
NM_000577.5:c.336T>C
ClinVar RefSeq Alternation Syntax
NM_173841.3:c.399T>C
ClinVar RefSeq Alternation Syntax
NM_173843.3:c.288T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-11-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001643028
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs