Y156H (p.Tyr156His) variant of SHANK1 (Q9Y566)
Y156H (p.Tyr156His) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
Y156H (p.Tyr156His) variant details
- p.Tyr156His
- rs2513971485
- ClinGen CA406995006
- ClinVar RCV003223824
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available