Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Ala246Pro (p.A246P)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Ala246Pro (p.A246P) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Noonan syndrome 1
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) AND Noonan syndrome 1
- ClinVar Allele ID
- 29004
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.745G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.634G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.580G>C
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.736G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.472G>C
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.580G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003150930
- ClinVar Disease
- Noonan syndrome 1
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
Drugs