chr7:140453134:TCA> Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,134-140,453,136
hg38 chr7:140,753,334-140,753,336 

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1919_1921delTGA NP_004324.2:p.Val640_Lys641delinsGlu
Ensemble ENST00000288602.11:c.1919_1921delTGA ENST00000288602.11:p.Val640_Lys641delinsGlu
ENST00000496384.7:c.1799_1801delTGA ENST00000496384.7:p.Val600_Lys601delinsGlu
Summary

MGeND

Clinical significance not provided
Variant entry 2
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 COSM1133 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-10-12 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Uncertain significance no assertion criteria provided not provided unknown 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.1799_1801del (p.Val600_Lys601delinsGlu) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu) AND not provided 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
rs397516897 dbSNP
Genome
hg19
Position
chr7:140,453,134-140,453,136
Variant Type
snv
Reference Allele
TCA
Alternative Allele
-
Genome browser