Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Arg528His (p.R528H)
(
ENST00000225964.10 )
COL1A1 p.Arg528His (p.R528H) ( ENST00000225964.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) AND not provided
- ClinVar Allele ID
- 44566
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.1583G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-06-01
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000755939
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs