Details of mutation DSG2:R49H

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSG2R49Hc.146G>Ap.Arg49His318q12MissensePathogenic29Affect protein functionProbably damagingPropeptide sequence  DSG2_00007

Clinical reports of this mutation in patients and controls

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SNP reports

No SNP reports found.