D121H (p.Asp121His) variant of MECP2 (Methyl-CpG-binding protein 2)
D121H (p.Asp121His) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The record also includes published literature and structural context.
D121H (p.Asp121His) variant details
- p.Asp121His
- rs2522106457
- ClinGen CA415176516
- ClinVar RCV004421695
- Likely pathogenic
- Inborn genetic diseases
- Missense
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely 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)