Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gly506Glu (p.G506E)
(
ENST00000496384.7,
ENST00000288602.11,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Gly506Glu (p.G506E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Neoplasm of the large intestine
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) AND Neoplasm of the large intestine
- ClinVar Allele ID
- 362952
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1397G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1517G>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1397G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1397G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1286G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1133G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1331G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1397G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1517G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1406G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1241G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1241G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1295G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000424079
- ClinVar Disease
- Neoplasm of the large intestine
- Observed Origin Sample
- somatic
Drugs