Annotation Detail

Information
Associated Genes
IL7R
Associated Variants
IL7R p.Val138Ile (p.V138I) ( ENST00000303115.8, ENST00000506850.5 )
IL7R p.Val138Ile (p.V138I) ( ENST00000303115.8, ENST00000506850.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) AND not provided
ClinVar Allele ID
29879
ClinVar RefSeq Alternation Syntax
NR_120485.3:n.499G>A
ClinVar RefSeq Alternation Syntax
NM_002185.5:c.412G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2015-03-03
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001711072
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs