Gene

PMS2

Coding Change (c.)

c.400C>T

Protein Change (p.)

p.Arg134Ter

ClinVar Name

NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)

ClinVar Number

9234

Variant Forum

https://www.facebook.com/groups/204582377034846

Other Names

p.R134*:CGA>TGA