Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Phe635Leu (p.F635L) ( ENST00000644969.2, ENST00000646891.2, ENST00000288602.11, ENST00000496384.7 )
BRAF p.Phe635Leu (p.F635L) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu) AND not provided
ClinVar Allele ID
179094
ClinVar RefSeq Alternation Syntax
NM_001354609.2:c.1785T>A
ClinVar RefSeq Alternation Syntax
NM_001374258.1:c.1905T>A
ClinVar RefSeq Alternation Syntax
NM_001374244.1:c.1905T>A
ClinVar RefSeq Alternation Syntax
NM_001378467.1:c.1794T>A
ClinVar RefSeq Alternation Syntax
NM_001378470.1:c.1683T>A
ClinVar RefSeq Alternation Syntax
NM_001378473.1:c.1629T>A
ClinVar RefSeq Alternation Syntax
NM_001378474.1:c.1785T>A
ClinVar RefSeq Alternation Syntax
NM_001378475.1:c.1521T>A
ClinVar RefSeq Alternation Syntax
NM_001378472.1:c.1629T>A
ClinVar RefSeq Alternation Syntax
NM_001378468.1:c.1785T>A
ClinVar RefSeq Alternation Syntax
NM_001378469.1:c.1719T>A
ClinVar RefSeq Alternation Syntax
NM_001378471.1:c.1674T>A
ClinVar RefSeq Alternation Syntax
NM_004333.6:c.1785T>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2013-12-05
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000157824
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs