Annotation Detail
Information
- Associated Genes
- ACTG1
- Associated Variants
-
ACTG1 p.Thr120Ile (p.T120I)
(
ENST00000575994.6,
ENST00000571721.6,
ENST00000575842.5,
ENST00000571691.6,
ENST00000570382.2,
ENST00000575659.6,
ENST00000615544.5,
ENST00000575087.5,
ENST00000679480.1,
ENST00000573283.7,
ENST00000644774.2,
ENST00000681052.1 )
ACTG1 p.Thr120Ile (p.T120I) ( ENST00000570382.2, ENST00000571691.6, ENST00000571721.6, ENST00000573283.7, ENST00000575087.5, ENST00000575659.6, ENST00000575842.5, ENST00000575994.6, ENST00000615544.5, ENST00000644774.2, ENST00000679480.1, ENST00000681052.1 ) - Associated Disease
- Baraitser-Winter syndrome 2
- Source Database
- ClinVar
- Description
- NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) AND Baraitser-winter syndrome 2
- ClinVar Allele ID
- 38540
- ClinVar RefSeq Alternation Syntax
- NM_001199954.3:c.359C>T
- ClinVar RefSeq Alternation Syntax
- NR_037688.3:n.431C>T
- ClinVar RefSeq Alternation Syntax
- NM_001614.5:c.359C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-02-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022423
- ClinVar Disease
- Baraitser-winter syndrome 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 22366783
Drugs