The UMD-APC mutations database
Record ID: 5596

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.509_512delATAGp.Asp170ValfsX4

wt codonwt aamutant codonmutant aamutational eventmutation type
GATAspdel4bFs.Stop at 173Fr.

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
7_-3219ILP0611082E061000Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data