T105= variant of COL5A2 (Collagen alpha-2(V) chain)
T105= in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data, published literature, and structural context.
T105= variant details
- rs4128539
- ClinVar RCV000124523
- ClinVar RCV000587095
- ClinVar RCV001082631
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)