Annotation Detail
Information
- Associated Genes
- DDR2
- Associated Variants
-
DDR2 p.Ile726Arg (p.I726R)
(
ENST00000367921.8,
ENST00000446985.6,
ENST00000367922.7 )
DDR2 p.Ile726Arg (p.I726R) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 ) - Associated Disease
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- Source Database
- ClinVar
- Description
- NM_006182.4(DDR2):c.2177T>G (p.Ile726Arg) AND Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- ClinVar Allele ID
- 27353
- ClinVar RefSeq Alternation Syntax
- NM_001014796.3:c.2177T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354982.2:c.2177T>G
- ClinVar RefSeq Alternation Syntax
- NM_006182.4:c.2177T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354983.2:c.2177T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013107
- ClinVar Disease
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- Observed Origin Sample
- germline
- Pubmed
- 19110212
- Pubmed
- 20223752
Drugs