chr7:140781603:C>A Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,403-140,481,403 View the variant detail on this assembly version.
hg38 chr7:140,781,603-140,781,603

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1525G>T NP_004324.2:p.Gly509Ter
Ensemble ENST00000288602.11:c.1525G>T ENST00000288602.11:p.Gly509Ter
ENST00000496384.7:c.1405G>T ENST00000496384.7:p.Gly469Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2013-05-03 criteria provided, single submitter not specified somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.242 Lymphoma, Non-Hodgkin NA CLINVAR Detail
0.131 Non-small cell lung carcinoma We present a case report of a patient with NSCLC and the BRAF G469R mutation who... BeFree 26237499 Detail
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1405G>T (p.Gly469Ter) AND not specified ClinVar Detail
NA DisGeNET Detail
We present a case report of a patient with NSCLC and the BRAF G469R mutation who showed a dramatic r... DisGeNET Detail
NA 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
rs121913357 dbSNP
Genome
hg38
Position
chr7:140,781,603-140,781,603
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser