Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gly509Val (p.G509V)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Gly509Val (p.G509V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Neoplasm of the large intestine
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Neoplasm of the large intestine
- ClinVar Allele ID
- 53970
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1406G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1295G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1340G>T
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1406G>T
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1526G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1406G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1142G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1406G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1250G>T
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1526G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1415G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1250G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1304G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-10-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000420102
- ClinVar Disease
- Neoplasm of the large intestine
- Observed Origin Sample
- somatic
Drugs