The UMD-APC mutations database
Record ID: 2776

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1270delCp.Gln424ArgfsX30

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlndel1aFs.Stop at 453Fr.

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
19_16714---16714.002Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data