A27= variant of COL4A5 (Collagen alpha-5(IV) chain)
A27= in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A27= variant details
- rs1569469478
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV5787
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available