Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asp634Val (p.D634V)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asp634Val (p.D634V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) AND Cardio-facio-cutaneous syndrome
- ClinVar Allele ID
- 362825
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1715A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1670A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1790A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1781A>T
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1901A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1517A>T
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1781A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1781A>T
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1901A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1625A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1781A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1679A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1625A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000824925
- ClinVar Disease
- Cardio-facio-cutaneous syndrome
- Observed Origin Sample
- unknown
Drugs