N54H (p.Asn54His) variant of GJB1 (Gap junction beta-1 protein)
N54H (p.Asn54His) in GJB1 (Gap junction beta-1 protein) 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.
N54H (p.Asn54His) variant details
- p.Asn54His
- rs2092542986
- ClinGen CA413501199
- ClinVar RCV001266338
- Ensembl rs2092542986
- 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)