Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 c.*1043A>G
(
ENST00000647893.1 )
ENPP1 c.*1043A>G ( ENST00000647893.1 ) - Associated Disease
- Arterial calcification, generalized, of infancy, 1
- Source Database
- ClinVar
- Description
- NM_006208.3(ENPP1):c.*1043A>G AND Arterial calcification, generalized, of infancy, 1
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 28629
- ClinVar RefSeq Alternation Syntax
- NM_006208.3:c.*1043A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000280683
- ClinVar Disease
- Arterial calcification, generalized, of infancy, 1
Drugs