Annotation Detail
Information
- Associated Genes
- INSR
- Associated Variants
-
INSR c.*2779G>A
(
ENST00000302850.10,
ENST00000341500.9 )
INSR c.*2779G>A ( ENST00000302850.10, ENST00000341500.9 ) - Associated Disease
- Leprechaunism syndrome
- Source Database
- ClinVar
- Description
- NM_000208.4(INSR):c.*2779G>A AND Leprechaunism syndrome
- ClinVar Allele ID
- 350496
- ClinVar RefSeq Alternation Syntax
- NM_001079817.3:c.*2779G>A
- ClinVar RefSeq Alternation Syntax
- NM_000208.4:c.*2779G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000404280
- ClinVar Disease
- Leprechaunism syndrome
- Observed Origin Sample
- germline
Drugs