Details of mutation DSP:Q1866X

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSPQ1866Xc.5596C>Tp.Gln1866X246p24NonsensePathogenic   Central rod 

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Navarro-Manchón et al. Revista Española de Cardiología 2011;64:530-4. Article details 0/200 LDAC1A truncated form of desmoplakin was detected by immunotransference in the proband’s skin biopsy
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SNP reports

No SNP reports found.