chr7:140481401:TCC> Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,401-140,481,403
hg38 chr7:140,781,601-140,781,603 

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1525_1527delGGA NP_004324.2:p.Gly509del
Ensemble ENST00000288602.11:c.1525_1527delGGA ENST00000288602.11:p.Gly509del
ENST00000496384.7:c.1405_1407delGGA ENST00000496384.7:p.Gly469del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM6022225 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-09-21 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1405_1407del (p.Gly469del) AND Non-small cell lung carcinoma ClinVar 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
rs397516890 dbSNP
Genome
hg19
Position
chr7:140,481,401-140,481,403
Variant Type
snv
Reference Allele
TCC
Alternative Allele
-
Genome browser