The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan.

Background: In the RH blood group genes, molecular variants that alter antigen expression with potential clinical relevance are frequently identified and reported in the literature.

Study Design And Methods: A pregnant woman in her first pregnancy, who originates from Japan, was typed by routine serological testing. The RHCE gene was investigated to identify single nucleotide variants (SNVs) and/or structural variants by a commercial platform, Sanger sequencing, and quantitative multiplex PCR of short fluorescent fragments.