Annotation Detail
Information
- Associated Genes
- MAP2K2
- Associated Variants
-
MAP2K2 p.Val64Gly (p.V64G)
(
ENST00000262948.10 )
MAP2K2 p.Val64Gly (p.V64G) ( ENST00000262948.10 ) - Associated Disease
- cardiofaciocutaneous syndrome 4
- Source Database
- ClinVar
- Description
- NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly) AND Cardiofaciocutaneous syndrome 4
- ClinVar Allele ID
- 424697
- ClinVar RefSeq Alternation Syntax
- NM_030662.4:c.191T>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-08-03
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000496536
- ClinVar Disease
- Cardiofaciocutaneous syndrome 4
- Observed Origin Sample
- de novo
Drugs