Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Ile503Ser (p.I503S)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Ile503Ser (p.I503S) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Carcinoma of colon
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser) AND Carcinoma of colon
- ClinVar Allele ID
- 29002
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1388T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1508T>G
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1388T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1388T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1124T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1508T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1322T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1397T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1232T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1277T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1388T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1286T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1232T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-08-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014996
- ClinVar Disease
- Carcinoma of colon
- Observed Origin Sample
- somatic
- Pubmed
- 12960123
- Pubmed
- 12198537
Drugs