Annotation Detail
Information
- Associated Genes
- COL3A1
- Associated Variants
-
COL3A1 p.Ile1205Val (p.I1205V)
(
ENST00000304636.9,
ENST00000450867.2,
ENST00000713744.1,
ENST00000713745.1 )
COL3A1 p.Ile1205Val (p.I1205V) ( ENST00000304636.9, ENST00000450867.2, ENST00000713744.1, ENST00000713745.1 ) - Associated Disease
- Ehlers-Danlos syndrome, type 4
- Source Database
- ClinVar
- Description
- NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) AND Ehlers-Danlos syndrome, type 4
- ClinVar Allele ID
- 140559
- ClinVar RefSeq Alternation Syntax
- NM_000090.4:c.3613A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000323932
- ClinVar Disease
- Ehlers-Danlos syndrome, type 4
- Observed Origin Sample
- germline
Drugs