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: Astrocytoma, low-grade, somatic
Source Database: ClinVar
Description: NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) AND Astrocytoma, low-grade, somatic
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/RCV000014994
ClinVar Disease: Astrocytoma, low-grade, somatic
Observed Origin Sample: somatic
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