Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Thr510Arg (p.T510R)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Thr510Arg (p.T510R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Noonan syndrome
- Source Database
- ClinVar
- Description
- NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) AND Noonan syndrome
- ClinVar Allele ID
- 53971
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1409C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1253C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1253C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1145C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1343C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1307C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1529C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1418C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1409C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1529C>G
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1298C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1409C>G
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1409C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2012-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000037920
- ClinVar Disease
- Noonan syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs