Annotation Detail
Information
- Associated Genes
- COL5A2
- Associated Variants
-
COL5A2 p.Gly345= (p.G345=)
(
ENST00000374866.9,
ENST00000618828.1 )
COL5A2 p.Gly345= (p.G345=) ( ENST00000374866.9, ENST00000618828.1 ) - Associated Disease
- Ehlers-Danlos syndrome, classic type, 2
- Source Database
- ClinVar
- Description
- NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) AND Ehlers-Danlos syndrome, classic type, 2
- ClinVar Allele ID
- 140637
- ClinVar RefSeq Alternation Syntax
- NM_000393.5:c.1035G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-07-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001001972
- ClinVar Disease
- Ehlers-Danlos syndrome, classic type, 2
- Observed Origin Sample
- germline
Drugs