Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Gly509Arg (p.G509R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly509Arg (p.G509R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) AND not provided
ClinVar Allele ID
29009
ClinVar RefSeq Alternation Syntax
NM_001378475.1:c.1141G>C
ClinVar RefSeq Alternation Syntax
NM_001354609.2:c.1405G>C
ClinVar RefSeq Alternation Syntax
NM_001378468.1:c.1405G>C
ClinVar RefSeq Alternation Syntax
NM_001378467.1:c.1414G>C
ClinVar RefSeq Alternation Syntax
NM_001374244.1:c.1525G>C
ClinVar RefSeq Alternation Syntax
NM_001378470.1:c.1303G>C
ClinVar RefSeq Alternation Syntax
NM_001378474.1:c.1405G>C
ClinVar RefSeq Alternation Syntax
NM_001378471.1:c.1294G>C
ClinVar RefSeq Alternation Syntax
NM_004333.6:c.1405G>C
ClinVar RefSeq Alternation Syntax
NM_001374258.1:c.1525G>C
ClinVar RefSeq Alternation Syntax
NM_001378469.1:c.1339G>C
ClinVar RefSeq Alternation Syntax
NM_001378472.1:c.1249G>C
ClinVar RefSeq Alternation Syntax
NM_001378473.1:c.1249G>C
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-12-17
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000033306
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs