chr7:140481412:C>T Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,412-140,481,412
hg38 chr7:140,781,612-140,781,612 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1516G>A NP_004324.2:p.Gly506Arg
Ensemble ENST00000288602.11:c.1516G>A ENST00000288602.11:p.Gly506Arg
ENST00000496384.7:c.1396G>A ENST00000496384.7:p.Gly466Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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 COSM253328 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2010-08-20 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm of ovary 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.1396G>A (p.Gly466Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) AND Neoplasm of ovary 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
rs121913353 dbSNP
Genome
hg19
Position
chr7:140,481,412-140,481,412
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser