Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gly636Cys (p.G636C)
(
ENST00000646891.2,
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2 )
BRAF p.Gly636Cys (p.G636C) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Noonan syndrome and Noonan-related syndrome
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) AND Noonan syndrome and Noonan-related syndrome
- ClinVar Allele ID
- 53981
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.1720G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.1795G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.1786G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.1675G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1630G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.1684G>T
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.1786G>T
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.1906G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1522G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.1786G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.1786G>T
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1630G>T
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.1906G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-03-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813335
- ClinVar Disease
- Noonan syndrome and Noonan-related syndrome
- Observed Origin Sample
- germline
Drugs