Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Val640Glu (p.V640E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) AND Cardiovascular phenotype
- ClinVar Allele ID
- 29000
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1643T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1697T>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1799T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1799T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1799T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1688T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1919T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1733T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1919T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1808T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1535T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1799T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1643T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-05-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004018627
- Observed Origin Sample
- germline
Drugs