Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asn621Lys (p.N621K)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asn621Lys (p.N621K) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- cardiofaciocutaneous syndrome 1 LEOPARD syndrome 3 lung carcinoma Noonan syndrome 1 Noonan syndrome 7
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) AND multiple conditions
- ClinVar Allele ID
- 53978
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1677T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1743T>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1743T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1743T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1641T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1752T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1863T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1479T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1632T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1743T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1587T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1863T>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1587T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763165
- ClinVar Disease
- LEOPARD syndrome 3
- ClinVar Disease
- Cardiofaciocutaneous syndrome 1
- ClinVar Disease
- Noonan syndrome 7
- ClinVar Disease
- Lung carcinoma
- ClinVar Disease
- Noonan syndrome 1
- Observed Origin Sample
- unknown
Drugs