K304N (p.Lys304Asn) variant of MECP2 (Methyl-CpG-binding protein 2)
K304N (p.Lys304Asn) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rett syndrome. The record also includes published literature and structural context.
K304N (p.Lys304Asn) variant details
- p.Lys304Asn
- rs1603308358
- ClinGen CA415169023
- ClinVar RCV000811977
- ClinVar RCV002370183
- Pathogenic
- Rett syndrome
- Missense
- ClinVar: Pathogenic (Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)