Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gly509Arg (p.G509R)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Gly509Arg (p.G509R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Malignant melanoma of skin
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND Malignant melanoma of skin
- ClinVar Allele ID
- 29009
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1141G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1405G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1405G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1414G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1525G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1303G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1405G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1294G>C
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1405G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1525G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1339G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1249G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1249G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000428425
- ClinVar Disease
- Malignant melanoma of skin
- Observed Origin Sample
- somatic
Drugs