chr1:162778600:T>A Detail (hg38) (DDR2)

Information

Genome

Assembly Position
hg19 chr1:162,748,390-162,748,390 View the variant detail on this assembly version.
hg38 chr1:162,778,600-162,778,600

HGVS

Type Transcript Protein
RefSeq NM_006182.2:c.2304T>A NP_006173.2:p.Ser768Arg
NM_001014796.1:c.2304T>A NP_001014796.1:p.Ser768Arg
Ensemble ENST00000367921.8:c.2304T>A ENST00000367921.8:p.Ser768Arg
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 191311 OMIM
HGNC 2731 HGNC
Ensembl ENSG00000162733 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5967517 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2016-03-10 no assertion provided Non-small cell lung carcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided squamous cell carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Dasatinib,Erlotinib C Predictive Supports Sensitivity/Response Somatic 3 22328973 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a patient expressing a DDR2 S768R mutation, treatment with dasatinib plus erlotinib acheived a pa... CIViC Evidence Detail
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg) AND Squamous cell carcinoma 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
rs267598140 dbSNP
Genome
hg38
Position
chr1:162,778,600-162,778,600
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
S768R
Transcript 1 (CIViC Variant)
ENST00000367922.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/145
Summary (CIViC Variant)
Activating mutations in DDR2, including S768R, has been shown to be sensitive to dasatinib in cell lines.
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