Annotation Detail
Information
- Associated Genes
- IL4R
- Associated Variants
-
IL4R p.Gln576Arg (p.Q576R)
(
ENST00000543915.6,
ENST00000170630.6,
ENST00000395762.7 )
IL4R p.Gln576Arg (p.Q576R) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 ) - Associated Disease
- Atopy, resistance to
- Source Database
- ClinVar
- Description
- NM_000418.4(IL4R):c.1727A>G (p.Gln576Arg) AND Atopy, resistance to
- ClinVar Allele ID
- 29704
- ClinVar RefSeq Alternation Syntax
- NM_001257407.2:c.1682A>G
- ClinVar RefSeq Alternation Syntax
- NM_001257406.2:c.1727A>G
- ClinVar RefSeq Alternation Syntax
- NM_001257997.2:c.1247A>G
- ClinVar RefSeq Alternation Syntax
- NM_000418.4:c.1727A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2005-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003333723
- ClinVar Disease
- Atopy, resistance to
- Observed Origin Sample
- germline
- Pubmed
- 9392697
- Pubmed
- 10905893
- Pubmed
- 10233717
- Pubmed
- 15173254
- Pubmed
- 15712015
- Pubmed
- 9515586
- Pubmed
- 9537881
Drugs