Annotation Detail
Information
- Associated Genes
- AKT2
- Associated Variants
-
AKT2 p.Glu17Lys (p.E17K)
(
ENST00000311278.10,
ENST00000392038.7,
ENST00000424901.5,
ENST00000579047.5 )
AKT2 p.Glu17Lys (p.E17K) ( ENST00000311278.10, ENST00000392038.7, ENST00000424901.5, ENST00000579047.5 ) - Associated Disease
- Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Source Database
- ClinVar
- Description
- NM_001626.6(AKT2):c.49G>A (p.Glu17Lys) AND Hypoinsulinemic hypoglycemia and body hemihypertrophy
- ClinVar Allele ID
- 38759
- ClinVar RefSeq Alternation Syntax
- NM_001243028.3:c.-138G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330511.1:c.49G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243027.3:c.-138G>A
- ClinVar RefSeq Alternation Syntax
- NM_001626.6:c.49G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-06-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022676
- ClinVar Disease
- Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Observed Origin Sample
- germline
- Pubmed
- 21979934
Drugs