Details of mutation DSP:Q1301X

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSPQ1301Xc.3901C>Tp.Gln1301X236p24NonsensePathogenic   Central rodautosomal recessive

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Krishnamurthy et al. Indian Journal of Pediatrics 2011;78:866-9. Article details 0/0 Carvajal syndrome Parents are first cousins and heterozygous for the Q1301X mutation
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SNP reports

No SNP reports found.