Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gly504Glu (p.G504E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Gly504Glu (p.G504E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) AND Cardio-facio-cutaneous syndrome
- ClinVar Allele ID
- 29003
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1391G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1280G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1325G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1235G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1235G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1289G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1511G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1127G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1391G>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1391G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1391G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1511G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1400G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001261044
- ClinVar Disease
- Cardio-facio-cutaneous syndrome
- Observed Origin Sample
- unknown
Drugs