Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Val640Asp (p.V640D)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- melanoma
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1799_1800delinsAC (p.Val600Asp) AND Melanoma
- ClinVar Allele ID
- 2476259
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1535_1536delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1808_1809delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1919_1920delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1799_1800delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1799_1800delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1688_1689delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1799_1800delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1799_1800delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1733_1734delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1643_1644delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1643_1644delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1919_1920delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1697_1698delinsAC
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-03-28
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003222500
- ClinVar Disease
- Melanoma
- Observed Origin Sample
- somatic
Drugs