Annotation Detail
Information
- Associated Genes
- FOXI3
- Associated Variants
-
FOXI3 p.Val235= (p.V235=)
(
ENST00000428390.3 )
FOXI3 p.Arg236Trp (p.R236W) ( ENST00000428390.3 ) - Associated Disease
- Craniofacial microsomia 2
- Source Database
- ClinVar
- Description
- NM_001135649.3(FOXI3):c.706C>T (p.Arg236Trp) AND Craniofacial microsomia 2
- ClinVar Allele ID
- 2404847
- ClinVar RefSeq Alternation Syntax
- NM_001135649.3:c.706C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003315378
- ClinVar Disease
- Craniofacial microsomia 2
- Observed Origin Sample
- germline
- Pubmed
- 37041148
- Pubmed
- 36260083
Drugs