chr7:140777994:A>T Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,477,794-140,477,794 View the variant detail on this assembly version.
hg38 chr7:140,777,994-140,777,994

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1634T>A NP_004324.2:p.Leu545His
Ensemble ENST00000288602.11:c.1634T>A ENST00000288602.11:p.Leu545His
ENST00000496384.7:c.1514T>A ENST00000496384.7:p.Leu505His
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 COSM243226 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Vemurafenib D Predictive Supports Resistance Somatic 4 24112705 Detail
melanoma Vemurafenib B Predictive Supports Resistance Somatic 3 25515853 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Using a mutation screen in the BRAFV600E melanoma cell line A375, the L505H variant was identified a... CIViC Evidence Detail
In this study, the investigators followed 10 patients treated with vemurafenib, and then they collec... 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
chr7:140,777,994-140,777,994
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
L505H
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/658
Genome browser