Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asp678Glu (p.D678E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asp678Glu (p.D678E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- cardiofaciocutaneous syndrome 1
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND Cardiofaciocutaneous syndrome 1
- ClinVar Allele ID
- 29020
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1812T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1923T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.2034T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1914T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1650T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1758T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1914T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.2034T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1758T>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1914T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1803T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1848T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1914T>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-05-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015015
- ClinVar Disease
- Cardiofaciocutaneous syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 16804887
- Pubmed
- 16372351
Drugs