Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gly265Arg (p.G265R)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Gly265Arg (p.G265R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Noonan syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) AND Noonan syndrome
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 53999
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.793G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.637G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.793G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.691G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.793G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.793G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.793G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.793G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.793G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.637G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.802G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.529G>C
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.793G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-01-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000037962
- ClinVar Disease
- Noonan syndrome
- Observed Origin Sample
- germline
Drugs