Details of mutation DSG2:E713K

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSG2E713Kc.2137G>Ap.Glu713Lys1418q12MissenseNo known pathogenicity56ToleratedBenignIntracellular cadherin segmentReported by Basso et al. as E712K. DSG2_00045

Clinical reports of this mutation in patients and controls

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SNP reports

No SNP reports found.