Annotation Detail
Information
- Associated Genes
- ACTB
- Associated Variants
-
ACTB p.Val209Met (p.V209M)
(
ENST00000432588.6,
ENST00000473257.3,
ENST00000493945.6,
ENST00000642480.2,
ENST00000646664.1,
ENST00000674681.1,
ENST00000675515.1,
ENST00000676319.1,
ENST00000676397.1 )
ACTB p.Val209Met (p.V209M) ( 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.625G>A (p.Val209Met) AND Baraitser-Winter syndrome 1
- ClinVar Allele ID
- 132670
- ClinVar RefSeq Alternation Syntax
- NM_001101.5:c.625G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2020-06-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000116222
- ClinVar Disease
- Baraitser-Winter syndrome 1
- Observed Origin Sample
- germline
Drugs