Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Ala521Glu (p.A521E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Ala521Glu (p.A521E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) AND Neurodevelopmental delay
- ClinVar Allele ID
- 53972
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1562C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1331C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1562C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1451C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1340C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1442C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1442C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1286C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1286C>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1442C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1442C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1376C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1178C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002273942
- Observed Origin Sample
- de novo
Drugs