E10Q (p.Glu10Gln) variant of KMT2C (Q8NEZ4)
E10Q (p.Glu10Gln) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kleefstra syndrome 2.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- gnomAD rs1590054120
- Uncertain significance
- Kleefstra syndrome 2
- Missense
- ClinVar: Uncertain significance (Kleefstra syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance