chr7:140753318:C>T Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,118-140,453,118 View the variant detail on this assembly version.
hg38 chr7:140,753,318-140,753,318

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1937G>A NP_004324.2:p.Gly646Glu
Ensemble ENST00000644969.2:c.1937G>A ENST00000644969.2:p.Gly646Glu
ENST00000646891.2:c.1817G>A ENST00000646891.2:p.Gly606Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM1137 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Vemurafenib C Predictive Does Not Support Sensitivity/Response Somatic 2 29320312 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... 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
hg38
Position
chr7:140,753,318-140,753,318
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
G606E
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2223
Genome browser