The UMD-APC mutations database
Record ID: 5806

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.934_1408delp.Val312GlyfsX28

wt codonwt aamutant codonmutant aamutational eventmutation type
GTGValdel475aFs.Stop at 339Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, non coding strand

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
37_P02.01-E26278154879Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data