Annotation Detail
Information
- Associated Genes
- DDR2
- Associated Variants
-
DDR2 p.Glu113Lys (p.E113K)
(
ENST00000367922.7,
ENST00000367921.8,
ENST00000446985.6 )
DDR2 p.Glu113Lys (p.E113K) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006182.4(DDR2):c.337G>A (p.Glu113Lys) AND not provided
- ClinVar Allele ID
- 75297
- ClinVar RefSeq Alternation Syntax
- NM_001014796.3:c.337G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354983.2:c.337G>A
- ClinVar RefSeq Alternation Syntax
- NM_006182.4:c.337G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354982.2:c.337G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001377778
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs