Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asp634Asn (p.D634N)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asp634Asn (p.D634N) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Squamous cell carcinoma of the head and neck
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) AND Squamous cell carcinoma of the head and neck
- ClinVar Allele ID
- 53980
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1780G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1900G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1780G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1516G>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1780G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1624G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1714G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1624G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1789G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1900G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1678G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1669G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1780G>A
- 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/RCV000434944
- ClinVar Disease
- Squamous cell carcinoma of the head and neck
- Observed Origin Sample
- somatic
Drugs