The UMD-APC mutations database
Record ID: 2178

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1049_1050delCTp.Ser350TrpfsX14

wt codonwt aamutant codonmutant aamutational eventmutation type
TCTSerdel2bFs.Stop at 363Fr.

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
4_33594---33594Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data