Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Glu541Lys (p.E541K)
(
ENST00000496384.7,
ENST00000288602.11,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Glu541Lys (p.E541K) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- cardiofaciocutaneous syndrome 1
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) AND Cardiofaciocutaneous syndrome 1
- ClinVar Allele ID
- 29016
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1621G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1501G>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1501G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1435G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1345G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1345G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1501G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1399G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1237G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1501G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1621G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1510G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1390G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-09-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015011
- ClinVar Disease
- Cardiofaciocutaneous syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 16474404
- Pubmed
- 3265306
Drugs