The UMD-APC mutations database
Record ID: 4530

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1_422delp.Met1?

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetdel422aFs.Stop at 6Fr.

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_-163G01875G01875Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data