The UMD-APC mutations database
Record ID: 2489

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.6337_6340delAGTAp.Ser2113ValfsX25

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerdel4aFs.Stop at 2137Fr.

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-155---1499MYHRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data