Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Glu541Val (p.E541V)
(
ENST00000496384.7,
ENST00000288602.11,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Glu541Val (p.E541V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) AND Cardio-facio-cutaneous syndrome
- ClinVar Allele ID
- 48844
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1502A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1346A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1391A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1502A>T
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1622A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1511A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1400A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1238A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1502A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1346A>T
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1502A>T
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1622A>T
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1436A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-09-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000037924
- ClinVar Disease
- Cardio-facio-cutaneous syndrome
- Observed Origin Sample
- germline
Drugs