Annotation Detail
Information
- Associated Genes
- COL1A2
- Associated Variants
-
COL1A2 p.Pro549Ala (p.P549A)
(
ENST00000297268.11 )
COL1A2 p.Pro549Ala (p.P549A) ( ENST00000297268.11 ) - Associated Disease
- Ehlers-Danlos syndrome, classic type, 1 Osteogenesis imperfecta type I
- Source Database
- ClinVar
- Description
- NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) AND multiple conditions
- ClinVar Allele ID
- 252982
- ClinVar RefSeq Alternation Syntax
- NM_000089.4:c.1645C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001512869
- ClinVar Disease
- Osteogenesis imperfecta type I
- ClinVar Disease
- Ehlers-Danlos syndrome, classic type, 1
- Observed Origin Sample
- germline
Drugs