Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
COL1A1 p.Gly704Ser (p.G704S)
(
ENST00000225964.10 )
COL1A1 p.Gly704Ser (p.G704S) ( ENST00000225964.10 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) AND not specified
- ClinVar Allele ID
- 800051
- ClinVar RefSeq Alternation Syntax
- NM_000088.4:c.2110G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-03-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001002442
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs