Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Leu637Ser (p.L637S)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Leu637Ser (p.L637S) ( ENST00000646891.2, ENST00000644969.2, ENST00000288602.11, ENST00000496384.7 ) - Associated Disease
- melanoma
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) AND Melanoma
- ClinVar Allele ID
- 362821
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1789_1790delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1678_1679delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1798_1799delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1789_1790delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1789_1790delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1909_1910delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1633_1634delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1909_1910delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1525_1526delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1687_1688delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1723_1724delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1789_1790delinsTC
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1633_1634delinsTC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000443303
- ClinVar Disease
- Melanoma
- Observed Origin Sample
- somatic
Drugs