A147S (p.Ala147Ser) variant of RPGR (Q92834)
A147S (p.Ala147Ser) in RPGR (Q92834) is a missense change. The record also includes structural context.
A147S (p.Ala147Ser) variant details
- p.Ala147Ser
- cosmic curated COSV58833
- Missense
- Structural context available