Details of mutation TMEM43:Splice

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
TMEM43Splicec.705+7G>Ar.spl?83p25Splice sitePathogenic     

Clinical reports of this mutation in patients and controls

Please login to comment on this mutation.

SNP reports

No SNP reports found.