Annotation Detail

Information

Associated Genes: BRAF
Associated Variants: BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease: Nongerminomatous germ cell tumor
Source Database: ClinVar
Description: NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) AND Nongerminomatous germ cell tumor
ClinVar Allele ID: 29000
ClinVar RefSeq Alternation Syntax: NM_001378472.1:c.1643T>A
ClinVar RefSeq Alternation Syntax: NM_001378470.1:c.1697T>A
ClinVar RefSeq Alternation Syntax: NM_004333.6:c.1799T>A
ClinVar RefSeq Alternation Syntax: NM_001378468.1:c.1799T>A
ClinVar RefSeq Alternation Syntax: NM_001354609.2:c.1799T>A
ClinVar RefSeq Alternation Syntax: NM_001378471.1:c.1688T>A
ClinVar RefSeq Alternation Syntax: NM_001374258.1:c.1919T>A
ClinVar RefSeq Alternation Syntax: NM_001378469.1:c.1733T>A
ClinVar RefSeq Alternation Syntax: NM_001374244.1:c.1919T>A
ClinVar RefSeq Alternation Syntax: NM_001378467.1:c.1808T>A
ClinVar RefSeq Alternation Syntax: NM_001378475.1:c.1535T>A
ClinVar RefSeq Alternation Syntax: NM_001378474.1:c.1799T>A
ClinVar RefSeq Alternation Syntax: NM_001378473.1:c.1643T>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2014-09-04
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000022677
ClinVar Disease: Nongerminomatous germ cell tumor
Observed Origin Sample: somatic
Pubmed: 14513361
Pubmed: 24670642
Pubmed: 12198537
Pubmed: 15001635
Pubmed: 15181070
Pubmed: 15356022
Pubmed: 16015629
Pubmed: 16174717
Pubmed: 22281684
Pubmed: 15342696
Pubmed: 17374713
Pubmed: 12447372
Pubmed: 21107323
Pubmed: 17785355
Pubmed: 21107320
Pubmed: 16187918
Pubmed: 12960123
Pubmed: 15126572
Pubmed: 14602780
Pubmed: 12068308
Pubmed: 12794760
Pubmed: 16772349
Pubmed: 28854169
Pubmed: 19571295
Pubmed: 23685455
Pubmed: 25079330
Pubmed: 15687339
Pubmed: 12644542
Pubmed: 20818844
Pubmed: 20823850
Pubmed: 12619120
Pubmed: 15386408
Pubmed: 18398503
Pubmed: 15998781
Pubmed: 29925953
Pubmed: 24512911
Pubmed: 17488796
Pubmed: 22113612
Pubmed: 24717435
Pubmed: 23302800
Pubmed: 12670889

Drugs