Annotation Detail
Information
- Associated Genes
- ARAF
- Associated Variants
-
ARAF p.Ser214Cys (p.S214C)
(
ENST00000377045.9 )
ARAF p.Ser214Cys (p.S214C) ( ENST00000377045.9 ) - Associated Disease
- Malignant melanoma of skin
- Source Database
- ClinVar
- Description
- NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) AND Malignant melanoma of skin
- ClinVar Allele ID
- 363016
- ClinVar RefSeq Alternation Syntax
- NM_001256196.2:c.650C>G
- ClinVar RefSeq Alternation Syntax
- NM_001654.5:c.641C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000427514
- ClinVar Disease
- Malignant melanoma of skin
- Observed Origin Sample
- somatic
Drugs