Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Gln257Lys (p.Q257K)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Gln257Lys (p.Q257K) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) AND Inborn genetic diseases
- ClinVar Allele ID
- 48821
- ClinVar RefSeq Alternation Syntax
- NM_001374244.1:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378468.1:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378472.1:c.613C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354609.2:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378474.1:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378467.1:c.778C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378470.1:c.667C>A
- ClinVar RefSeq Alternation Syntax
- NM_004333.6:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378471.1:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378473.1:c.613C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374258.1:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378469.1:c.769C>A
- ClinVar RefSeq Alternation Syntax
- NM_001378475.1:c.505C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-10-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000624665
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs