H618P (p.His618Pro) variant of DSP (Desmoplakin)
H618P (p.His618Pro) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri. The record also includes published literature and structural context.
H618P (p.His618Pro) variant details
- p.His618Pro
- rs1554107096
- ClinGen CA362679550
- ClinVar RCV000412632
- ClinVar RCV003766143
- Likely pathogenic
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- ClinVar: Likely pathogenic (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Pathogenic (in DCWHKTA)
- UniProt: Pathogenic (in DCWHKTA)
- Structural context available
- Cited in: Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. (PMID 26604139)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)