Annotation Detail
Information
- Associated Genes
- COL1A2
- Associated Variants
-
COL1A2 p.Pro549Ser (p.P549S)
(
ENST00000297268.11 )
COL1A2 p.Pro549Ser (p.P549S) ( ENST00000297268.11 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) AND not provided
- ClinVar Allele ID
- 833962
- ClinVar RefSeq Alternation Syntax
- NM_000089.4:c.1645C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-05-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003442196
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs