D2H (p.Asp2His) variant of DSG1 (Desmoglein-1)
D2H (p.Asp2His) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- rs2511038285
- ClinGen CA402127287
- NCI-TCGA Cosmic COSV9993
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available