Annotation Detail

Information
Associated Genes
IL7R
Associated Variants
IL7R p.Ile66Thr (p.I66T) ( ENST00000303115.8, ENST00000506850.5, ENST00000511982.1 )
IL7R p.Ile66Thr (p.I66T) ( ENST00000303115.8, ENST00000506850.5, ENST00000511982.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) AND not specified
ClinVar Allele ID
29878
ClinVar RefSeq Alternation Syntax
NR_120485.3:n.284T>C
ClinVar RefSeq Alternation Syntax
NM_002185.5:c.197T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-24
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000121212
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs