Annotation Detail
Information
- Associated Genes
- IL4R
- Associated Variants
-
IL4R p.Ser503Pro (p.S503P)
(
ENST00000543915.6,
ENST00000395762.7,
ENST00000170630.6 )
IL4R p.Ser503Pro (p.S503P) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 ) - Associated Disease
- Atopy, resistance to
- Source Database
- ClinVar
- Description
- NM_000418.4(IL4R):c.1507T>C (p.Ser503Pro) AND Atopy, resistance to
- ClinVar Allele ID
- 29706
- ClinVar RefSeq Alternation Syntax
- NM_000418.4:c.1507T>C
- ClinVar RefSeq Alternation Syntax
- NM_001257407.2:c.1462T>C
- ClinVar RefSeq Alternation Syntax
- NM_001257406.2:c.1507T>C
- ClinVar RefSeq Alternation Syntax
- NM_001257997.2:c.1027T>C
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2013-10-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003333725
- ClinVar Disease
- Atopy, resistance to
- Observed Origin Sample
- germline
- Pubmed
- 10233717
- Pubmed
- 15712015
- Pubmed
- 11709756
Drugs