Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Lys539Glu (p.K539E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Lys539Glu (p.K539E) ( ENST00000288602.11, ENST00000646891.2, ENST00000496384.7, ENST00000644969.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND not provided
- ClinVar Allele ID
- 29015
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1384A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1429A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1393A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1495A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1615A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1504A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1495A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1495A>G
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1495A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1339A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1231A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1615A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1339A>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2018-08-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000207517
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs