Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asp605Glu (p.D605E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asp605Glu (p.D605E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) AND not provided
- ClinVar Allele ID
- 48853
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1539T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1539T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1695T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1431T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1815T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1704T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1593T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1695T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1815T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1695T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1629T>G
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1584T>G
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1695T>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000207514
- ClinVar Disease
- not provided
- Observed Origin Sample
- de novo
Drugs