Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Thr241Met (p.T241M)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Thr241Met (p.T241M) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Noonan syndrome 7
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.722C>T (p.Thr241Met) AND Noonan syndrome 7
- ClinVar Allele ID
- 38760
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.458C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.731C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.620C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.566C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.566C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2021-12-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022678
- ClinVar Disease
- Noonan syndrome 7
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 19206169
Drugs