R4779G (p.Arg4779Gly) variant of KMT2C (Q8NEZ4)
R4779G (p.Arg4779Gly) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of KMT2C-related NDD.
R4779G (p.Arg4779Gly) variant details
- p.Arg4779Gly
- Ensembl rs2129092661
- Likely pathogenic
- KMT2C-related NDD
- Missense
- ClinVar: Likely pathogenic (KMT2C-related NDD)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic