chr6:117638347:C>T Detail (hg19) (ROS1)

Information

Genome

Assembly Position
hg19 chr6:117,638,347-117,638,347
hg38 chr6:117,317,184-117,317,184 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002944.2:c.6094G>A NP_002935.2:p.Gly2032Arg
Ensemble ENST00000368507.8:c.6076G>A ENST00000368507.8:p.Gly2026Arg
ENST00000368508.7:c.6094G>A ENST00000368508.7:p.Gly2032Arg
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 165020 OMIM
HGNC 10261 HGNC
Ensembl ENSG00000047936 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
Pathogenic Likely pathogenic 2014-12-26 no assertion criteria provided lung adenocarcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Crizotinib C Predictive Supports Resistance Somatic 1 23724914 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Resistance to crizotinib developed in a patient with metastatic lung adenocarcinoma harboring a CD74... CIViC Evidence Detail
NM_001378902.1(ROS1):c.6076G>A (p.Gly2026Arg) AND Lung adenocarcinoma 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
rs1057519788 dbSNP
Genome
hg19
Position
chr6:117,638,347-117,638,347
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
G2032R
Transcript 1 (CIViC Variant)
ENST00000368508.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1271
Genome browser