The UMD-APC mutations database
Record ID: 2559

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3698_3724delinsTGTGCCACTGACCACTTGCAA

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerindelsindelsindelsindels

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


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

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0.5 - 65 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
10_APC-008---24PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data