Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Ala752Asp (p.A752D)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Ala752Asp (p.A752D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Noonan syndrome 7
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) AND Noonan syndrome 7
- ClinVar Allele ID
- 174175
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.2033C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.2127+5049C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.2024C>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.2135C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.1871C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.2069C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.2255C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.1979C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.1979C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.2135C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.2255C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.2144C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.2127+5049C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-04-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001374414
- ClinVar Disease
- Noonan syndrome 7
- Observed Origin Sample
- de novo
Drugs