Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Leu637Val (p.L637V)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Leu637Val (p.L637V) ( ENST00000646891.2, ENST00000288602.11, ENST00000496384.7, ENST00000644969.2 ) - Associated Disease
- Noonan syndrome Cardio-facio-cutaneous syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) AND multiple conditions
- ClinVar Allele ID
- 29008
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1687C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1633C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1789C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1525C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1678C>G
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1789C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1909C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1789C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1789C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1909C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1723C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1798C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1633C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-04-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033333
- ClinVar Disease
- Noonan syndrome
- ClinVar Disease
- Cardio-facio-cutaneous syndrome
- Observed Origin Sample
- germline
Drugs