Annotation Detail

Information
Associated Genes
DDR2
Associated Variants
DDR2 p.Ser768Arg (p.S768R) ( ENST00000367921.8, ENST00000446985.6, ENST00000367922.7 )
DDR2 p.Ser768Arg (p.S768R) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
Associated Disease
squamous cell carcinoma
Source Database
ClinVar
Description
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg) AND Squamous cell carcinoma
ClinVar Allele ID
362757
ClinVar RefSeq Alternation Syntax
NM_001014796.3:c.2304T>A
ClinVar RefSeq Alternation Syntax
NM_001354983.2:c.2304T>A
ClinVar RefSeq Alternation Syntax
NM_006182.4:c.2304T>A
ClinVar RefSeq Alternation Syntax
NM_001354982.2:c.2304T>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-10-02
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000437846
ClinVar Disease
Squamous cell carcinoma
Observed Origin Sample
somatic
Drugs