Annotation Detail
Information
- Associated Genes
- COL1A1 LOC126862586
- Associated Variants
-
COL1A1 c.804+80A>C
(
ENST00000225964.10 )
COL1A1 c.804+80A>C ( ENST00000225964.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.804+80A>C AND not provided
- ClinVar Allele ID
- 668099
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.804+80A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000834306
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs