chr7:140453153:> Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,153-140,453,155
hg38 chr7:140,753,353-140,753,355 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Irinotecan B Predictive Supports Resistance Somatic 3 19603024 Detail
colorectal cancer Oxaliplatin B Predictive Supports Resistance Somatic 3 19603024 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
The presence of BRAF V600E or D594K was associated with reduced progression-free survival in 5 patie... CIViC Evidence Detail
Of 100 metastatic colorectal cancer patients treated with oxaliplatin-based first-line therapy, the ... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr7:140,453,153-140,453,155
Variant Type
snv
Variant (CIViC) (CIViC Variant)
D594K
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2398
Variant (CIViC) (CIViC Variant)
D594
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2767
Variant (CIViC) (CIViC Variant)
D594E
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2799
Variant (CIViC) (CIViC Variant)
D594H
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2832
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