Annotation Detail
Information
- Associated Genes
- COL3A1
- Associated Variants
-
COL3A1 p.Ala698ThrfsTer93 (p.A698Tfs*93)
(
ENST00000304636.9,
ENST00000450867.2,
ENST00000713744.1,
ENST00000713745.1 )
COL3A1 p.Ala698ThrfsTer93 (p.A698Tfs*93) ( ENST00000304636.9, ENST00000450867.2, ENST00000713744.1, ENST00000713745.1 ) - Associated Disease
- COL3A1-related disorder
- Source Database
- ClinVar
- Description
- NM_000090.4(COL3A1):c.2092_2097delinsACTGG (p.Ala698fs) AND COL3A1-related disorder
- ClinVar Allele ID
- 2799330
- ClinVar RefSeq Alternation Syntax
- NM_000090.4:c.2092_2097delinsACTGG
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-10-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004529355
- ClinVar Disease
- COL3A1-related disorder
- Observed Origin Sample
- germline
Drugs