Annotation Detail
Information
- Associated Genes
- GNAO1
- Associated Variants
-
GNAO1 c.723+2T>A
(
ENST00000262494.13,
ENST00000638705.1,
ENST00000568375.3,
ENST00000262493.12,
ENST00000640469.2 )
GNAO1 c.723+2T>A ( ENST00000262493.12, ENST00000262494.13, ENST00000568375.3, ENST00000638705.1, ENST00000640469.2 ) - Associated Disease
- neurodevelopmental disorder with involuntary movements
- Source Database
- ClinVar
- Description
- NM_020988.3(GNAO1):c.723+2T>A AND Neurodevelopmental disorder with involuntary movements
- ClinVar Allele ID
- 1052635
- ClinVar RefSeq Alternation Syntax
- NM_020988.3:c.723+2T>A
- ClinVar RefSeq Alternation Syntax
- NM_138736.3:c.723+2T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-06-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001374408
- ClinVar Disease
- Neurodevelopmental disorder with involuntary movements
- Observed Origin Sample
- de novo
Drugs