Annotation Detail
Information
- Associated Genes
- IRS2
- Associated Variants
-
IRS2 p.Gly1057Asp (p.G1057D)
(
ENST00000375856.5 )
IRS2 p.Gly1057Asp (p.G1057D) ( ENST00000375856.5 ) - Associated Disease
- IRS2-related disorder
- Source Database
- ClinVar
- Description
- NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp) AND IRS2-related disorder
- ClinVar Allele ID
- 23859
- ClinVar RefSeq Alternation Syntax
- NM_003749.3:c.3170G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974814
- ClinVar Disease
- IRS2-related disorder
- Observed Origin Sample
- germline
Drugs