Annotation Detail

Information
Associated Genes
DDR2
Associated Variants
DDR2 p.Ile638Phe (p.I638F) ( ENST00000446985.6, ENST00000367921.8, ENST00000367922.7 )
DDR2 p.Ile638Phe (p.I638F) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
Associated Disease
Squamous cell lung carcinoma
Source Database
ClinVar
Description
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe) AND Squamous cell lung carcinoma
ClinVar Allele ID
363022
ClinVar RefSeq Alternation Syntax
NM_006182.4:c.1912A>T
ClinVar RefSeq Alternation Syntax
NM_001354983.2:c.1912A>T
ClinVar RefSeq Alternation Syntax
NM_001014796.3:c.1912A>T
ClinVar RefSeq Alternation Syntax
NM_001354982.2:c.1912A>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2014-12-26
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000439136
ClinVar Disease
Squamous cell lung carcinoma
Observed Origin Sample
somatic
Drugs