Details of mutation DSC2:A897fsX900

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSC2A897fsX900c.2686_2687dupGAp.Ala897LysfsX41618q12Insertion; frameshiftNo known pathogenicity   Cytoplasmic  DSC2_00031

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
De Bortoli et al. European Journal of Human Genetics 2010;18:776-82. Article details 6/400 4 out of 5 carried one or two mutations in different ARVC/D genes See Rampazzo et al; may be considered a rare variant, though possibly affecting phenotypic expression of concomitant ARVC/D mutations.
Elliott et al. Circulation Cardiovascular Genetics 2010;3:314-22. Article details 3/200 DCM  
Fressart et al. Europace 2010;12:861-8. Article details 5/600 TFC+; n=4 Classified as polymorphism
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35. Article details 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation
Rampazzo et al. European Heart Journal 2008;29:Suppl; 737. Article details 0/0 TFC+ Reported as "Polymorphism"
Tsatsopoulou et al. European Heart Journal 2007;28:Suppl; 382. Article details 0/0   See Syrris et al.
Syrris et al. American Journal of Human Genetics 2006;79:978-84. Article details 0/400 TFC+4Reported as c.2687_2688insGA; E896fsX900
UNPUBLISHED. Contact curators for more information . Article details 3/178    
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SNP reports

No SNP reports found.