Annotation Detail
Information
- Associated Genes
- IGF1R
- Associated Variants
-
IGF1R p.Glu1043= (p.E1043=)
(
ENST00000649865.1,
ENST00000650285.1 )
IGF1R p.Glu1043= (p.E1043=) ( ENST00000649865.1, ENST00000650285.1 ) - Associated Disease
- Growth delay due to insulin-like growth factor I resistance
- Source Database
- ClinVar
- Description
- NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=) AND Growth delay due to insulin-like growth factor I resistance
- ClinVar Allele ID
- 191773
- ClinVar RefSeq Alternation Syntax
- NM_001291858.2:c.3126G>A
- ClinVar RefSeq Alternation Syntax
- NM_000875.5:c.3129G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000279116
- ClinVar Disease
- Growth delay due to insulin-like growth factor I resistance
- Observed Origin Sample
- germline
Drugs