Annotation Detail
Information
- Associated Genes
- ACTB
- Associated Variants
-
ACTB p.Thr120Ile (p.T120I)
(
ENST00000432588.6,
ENST00000473257.3,
ENST00000493945.6,
ENST00000642480.2,
ENST00000646664.1,
ENST00000674681.1,
ENST00000675515.1,
ENST00000676319.1,
ENST00000676397.1 )
ACTB p.Thr120Ile (p.T120I) ( ENST00000432588.6, ENST00000473257.3, ENST00000493945.6, ENST00000642480.2, ENST00000646664.1, ENST00000674681.1, ENST00000675515.1, ENST00000676319.1, ENST00000676397.1 ) - Associated Disease
- Baraitser-Winter syndrome 1
- Source Database
- ClinVar
- Description
- NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) AND Baraitser-Winter syndrome 1
- ClinVar Allele ID
- 132666
- ClinVar RefSeq Alternation Syntax
- NM_001101.5:c.359C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-07-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000133571
- ClinVar Disease
- Baraitser-Winter syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 1415343
- Pubmed
- 23756437
- Pubmed
- 25052316
- Pubmed
- 10327243
Drugs