chr7:140753354:T>G Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,154-140,453,154 View the variant detail on this assembly version.
hg38 chr7:140,753,354-140,753,354

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1901A>C NP_004324.2:p.Asp634Ala
Ensemble ENST00000288602.11:c.1901A>C ENST00000288602.11:p.Asp634Ala
ENST00000496384.7:c.1781A>C ENST00000496384.7:p.Asp594Ala
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 COSM1583010 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin melanoma Sorafenib,Mitogen-Activated Protein Kinase Kinase Inhibitor E Predictive Supports Sensitivity/Response Somatic 3 20141835 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Preclinical study in melanoma cell lines. Inactivity of BRAF as mediated by specific mutation (D594A... CIViC Evidence Detail
NM_004333.6(BRAF):c.1781A>C (p.Asp594Ala) AND Melanoma ClinVar 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
rs121913338 dbSNP
Genome
hg38
Position
chr7:140,753,354-140,753,354
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
D594A
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/579
Genome browser