Annotation Detail
Information
- Associated Genes
- DDR2
- Associated Variants
-
DDR2 p.Leu239Arg (p.L239R)
(
ENST00000367922.7,
ENST00000446985.6,
ENST00000367921.8 )
DDR2 p.Leu239Arg (p.L239R) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 ) - Associated Disease
- Squamous cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_006182.4(DDR2):c.716T>G (p.Leu239Arg) AND Squamous cell lung carcinoma
- ClinVar Allele ID
- 363020
- ClinVar RefSeq Alternation Syntax
- NM_006182.4:c.716T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354982.2:c.716T>G
- ClinVar RefSeq Alternation Syntax
- NM_001014796.3:c.716T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354983.2:c.716T>G
- 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/RCV000439780
- ClinVar Disease
- Squamous cell lung carcinoma
- Observed Origin Sample
- somatic
Drugs