S42C (p.Ser42Cys) variant of CHD8 (Q9HCK8)
S42C (p.Ser42Cys) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided.
S42C (p.Ser42Cys) variant details
- p.Ser42Cys
- TOPMed rs1889563858
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance