chr7:140753335:CA>TT Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,135-140,453,136 View the variant detail on this assembly version.
hg38 chr7:140,753,335-140,753,336

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1919_1920delinsAA NP_004324.2:p.Val640Glu
Ensemble ENST00000288602.11:c.1919_1920delinsAA ENST00000288602.11:p.Val640Glu
ENST00000496384.7:c.1799_1800delinsAA ENST00000496384.7:p.Val600Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164757 OMIM
HGNC 1097 HGNC
Ensembl ENSG00000157764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM475 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-07-14 no assertion criteria provided Colonic neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.431 melanoma Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutatio... BeFree 23317446 Detail
0.005 melanoma Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V... BeFree 23624923 Detail
0.431 melanoma Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V... BeFree 23624923 Detail
0.431 melanoma In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in... BeFree 15948220 Detail
<0.001 melanoma Preclinical studies revealed that GLV-1h68 combined with radiotherapy significan... BeFree 23624923 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) AND Colonic neoplasm ClinVar Detail
NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) AND Melanoma ClinVar Detail
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. DisGeNET Detail
Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant m... DisGeNET Detail
Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant m... DisGeNET Detail
In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in exon 15: two of whi... DisGeNET Detail
Preclinical studies revealed that GLV-1h68 combined with radiotherapy significantly increased cytoto... DisGeNET 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
-
dbSNP
rs121913377 dbSNP
Genome
hg38
Position
chr7:140,753,335-140,753,336
Variant Type
snv
Reference Allele
CA
Alternative Allele
TT
Genome browser