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
- not specified
- Source Database
- ClinVar
- Description
- NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) AND not specified
- ClinVar Allele ID
- 140637
- ClinVar RefSeq Alternation Syntax
- NM_000393.5:c.1035G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2013-09-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000124493
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs