D50H (p.Asp50His) variant of GJB6 (Gap junction beta-6 protein)
D50H (p.Asp50His) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hidrotic ectodermal dysplasia syndrome; Inborn genetic diseases. The record also includes published literature and structural context.
D50H (p.Asp50His) variant details
- p.Asp50His
- rs1869351345
- ClinGen CA387468745
- ClinVar RCV001267508
- ClinVar RCV003985842
- Likely pathogenic
- Hidrotic ectodermal dysplasia syndrome; Inborn genetic diseases
- Missense
- ClinVar: Likely pathogenic (Hidrotic ectodermal dysplasia syndrome; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hidrotic Ectodermal Dysplasia 2. (PMID 20301379)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)