Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Thr510Arg (p.T510R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Thr510Arg (p.T510R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) AND not provided
ClinVar Allele ID
53971
ClinVar RefSeq Alternation Syntax
NM_001378468.1:c.1409C>G
ClinVar RefSeq Alternation Syntax
NM_001378472.1:c.1253C>G
ClinVar RefSeq Alternation Syntax
NM_001378473.1:c.1253C>G
ClinVar RefSeq Alternation Syntax
NM_001378475.1:c.1145C>G
ClinVar RefSeq Alternation Syntax
NM_001378469.1:c.1343C>G
ClinVar RefSeq Alternation Syntax
NM_001378470.1:c.1307C>G
ClinVar RefSeq Alternation Syntax
NM_001374244.1:c.1529C>G
ClinVar RefSeq Alternation Syntax
NM_001378467.1:c.1418C>G
ClinVar RefSeq Alternation Syntax
NM_001378474.1:c.1409C>G
ClinVar RefSeq Alternation Syntax
NM_001374258.1:c.1529C>G
ClinVar RefSeq Alternation Syntax
NM_001378471.1:c.1298C>G
ClinVar RefSeq Alternation Syntax
NM_001354609.2:c.1409C>G
ClinVar RefSeq Alternation Syntax
NM_004333.6:c.1409C>G
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2018-07-20
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000681421
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs