Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Val640Lys (p.V640K)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Val640Lys (p.V640K) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- melanoma
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) AND Melanoma
- ClinVar Allele ID
- 362820
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1918_1919delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1534_1535delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1798_1799delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1642_1643delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1732_1733delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1687_1688delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1798_1799delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1798_1799delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1918_1919delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1696_1697delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1807_1808delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1798_1799delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1642_1643delinsAA
- 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/RCV000422502
- ClinVar Disease
- Melanoma
- Observed Origin Sample
- somatic
Drugs