The UMD-APC mutations database
Record ID: 3189

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.912_915dupp.Ser306AspfsX22

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerins4aFs.Stop at 327

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
33_SAT581---10-1019Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data