Annotation Detail
Information
- Associated Genes
- AKT3
- Associated Variants
-
AKT3 p.Glu17Lys (p.E17K)
(
ENST00000492957.2,
ENST00000263826.12,
ENST00000336199.9,
ENST00000366539.6,
ENST00000366540.5,
ENST00000672238.1,
ENST00000672578.1,
ENST00000673400.1,
ENST00000673466.1,
ENST00000680056.1 )
AKT3 p.Glu17Lys (p.E17K) ( ENST00000263826.12, ENST00000336199.9, ENST00000366539.6, ENST00000366540.5, ENST00000492957.2, ENST00000672238.1, ENST00000672578.1, ENST00000673400.1, ENST00000673466.1, ENST00000680056.1 ) - Associated Disease
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Source Database
- ClinVar
- Description
- NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) AND Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- ClinVar Allele ID
- 48415
- ClinVar RefSeq Alternation Syntax
- NM_001370074.1:c.49G>A
- ClinVar RefSeq Alternation Syntax
- NM_005465.7:c.49G>A
- ClinVar RefSeq Alternation Syntax
- NM_001206729.2:c.49G>A
- ClinVar RefSeq Alternation Syntax
- NM_181690.2:c.49G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-06-24
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033037
- ClinVar Disease
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Observed Origin Sample
- somatic
- Pubmed
- 22500628
- Pubmed
- 22729223
- Pubmed
- 31471318
Drugs