Annotation Detail
Information
- Associated Genes
- ACTB
- Associated Variants
-
ACTB p.Arg196Cys (p.R196C)
(
ENST00000432588.6,
ENST00000473257.3,
ENST00000493945.6,
ENST00000642480.2,
ENST00000646664.1,
ENST00000674681.1,
ENST00000675515.1,
ENST00000676319.1,
ENST00000676397.1 )
ACTB p.Arg196Cys (p.R196C) ( 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.586C>T (p.Arg196Cys) AND Baraitser-Winter syndrome 1
- ClinVar Allele ID
- 38554
- ClinVar RefSeq Alternation Syntax
- NM_001101.5:c.586C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022440
- ClinVar Disease
- Baraitser-Winter syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 22366783
- Pubmed
- 11311002
- Pubmed
- 23756437
Drugs