Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gly504Ala (p.G504A)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Gly504Ala (p.G504A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) AND Cardio-facio-cutaneous syndrome
- ClinVar Allele ID
- 48835
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1280G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1325G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1391G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1511G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1235G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1289G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1235G>C
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1391G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1511G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1400G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1391G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1127G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1391G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000824917
- ClinVar Disease
- Cardio-facio-cutaneous syndrome
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
Drugs