chr1:162729671:G>T Detail (hg19) (DDR2)

Information

Genome

Assembly Position
hg19 chr1:162,729,671-162,729,671
hg38 chr1:162,759,881-162,759,881 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006182.2:c.757G>T NP_006173.2:p.Gly253Cys
NM_001014796.1:c.757G>T NP_001014796.1:p.Gly253Cys
Ensemble ENST00000367921.8:c.757G>T ENST00000367921.8:p.Gly253Cys
Summary

MGeND

Clinical significance
Variant entry
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 191311 OMIM
HGNC 2731 HGNC
Ensembl ENSG00000162733 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
Likely pathogenic 2014-12-26 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
not provided 2016-03-10 no assertion provided Non-small cell lung carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Dasatinib D Predictive Supports Sensitivity/Response Somatic 4 22328973 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In 3T3 fibroblasts expressing the G253C mutation have to be sensitive to the tyrosine kinase inhibit... CIViC Evidence Detail
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys) AND Squamous cell lung carcinoma ClinVar Detail
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys) AND Non-small cell lung 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
rs376303676 dbSNP
Genome
hg19
Position
chr1:162,729,671-162,729,671
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
G253C
Transcript 1 (CIViC Variant)
ENST00000367922.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/141
Summary (CIViC Variant)
Activating mutations in DDR2, including G253C, has been shown to be sensitive to dasatinib in cell lines.
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