The UMD-APC mutations database
Record ID: 2493

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.209_212delAGCGp.Glu70ValfsX7

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGludel4bFs.Stop at 76Fr.

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
10_APC-051---1595PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data