Annotation Detail
Information
- Associated Genes
- GNAO1
- Associated Variants
-
GNAO1 p.Ile286Val (p.I286V)
(
ENST00000640469.2,
ENST00000638705.1,
ENST00000568375.3,
ENST00000262493.12,
ENST00000262494.13 )
GNAO1 p.Ile286Val (p.I286V) ( ENST00000262493.12, ENST00000262494.13, ENST00000568375.3, ENST00000638705.1, ENST00000640469.2 ) - Associated Disease
- Developmental and epileptic encephalopathy, 17
- Source Database
- ClinVar
- Description
- NM_020988.3(GNAO1):c.723+4106A>G AND Developmental and epileptic encephalopathy, 17
- ClinVar Allele ID
- 919665
- ClinVar RefSeq Alternation Syntax
- NM_138736.3:c.856A>G
- ClinVar RefSeq Alternation Syntax
- NM_020988.3:c.723+4106A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-10-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001196661
- ClinVar Disease
- Developmental and epileptic encephalopathy, 17
- Observed Origin Sample
- unknown
Drugs