The UMD-APC mutations database
Record ID: 5366

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.512_513delGTp.Ser171ThrfsX5

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerdel2bFs.Stop at 175Fr.

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
SO_-4483G07742G07742Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data