Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Arg502Ile (p.R502I)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Arg502Ile (p.R502I) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Carcinoma of colon
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile) AND Carcinoma of colon
- ClinVar Allele ID
- 29001
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1505G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1385G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1394G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1385G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1319G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1121G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1229G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1283G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1229G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1385G>T
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1385G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1274G>T
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1505G>T
- 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/RCV000014995
- ClinVar Disease
- Carcinoma of colon
- Observed Origin Sample
- somatic
- Pubmed
- 12960123
- Pubmed
- 12198537
Drugs