Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Lys523Asn (p.K523N)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Lys523Asn (p.K523N) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome Noonan syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) AND multiple conditions
- ClinVar Allele ID
- 174178
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1185A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1449A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1458A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1293A>C
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1569A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1449A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1338A>C
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1569A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1449A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1347A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1383A>C
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1449A>C
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1293A>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-02-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000154526
- ClinVar Disease
- Noonan syndrome
- ClinVar Disease
- Cardio-facio-cutaneous syndrome
- Observed Origin Sample
- germline
Drugs